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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA129877
Gene: HTR1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
31658
ClinVar RCV Id:
RCV000024351
RCV002247394
RCV003430640
dbSNP Id:
rs367956927
gnomAD v2:
5-63258025-CT-C
gnomAD v3:
5-63962198-CT-C
gnomAD v4:
5-63962198-CT-C
MyVariant Identifiers:
chr5:g.63258026del (hg19)
chr5:g.63962199del (hg38)
PubMed:
PMID:21990073
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.63962200del , CM000667.2:g.63962200del
GRCh38
NC_000005.9:g.63258027del , CM000667.1:g.63258027del
GRCh37
NC_000005.8:g.63293783del
NCBI36
NG_032816.1:g.5094del
Transcript Alleles
HGVS
Amino-acid change
ENST00000323865.5:c.-480del
MANE Select
ENSP00000316244.4:n.-480del
ENST00000506598.1:c.-387-93del
ENSP00000423433.1:n.-387-93del
NM_000524.3:c.-480del
NP_000515.2:n.-480del
NM_000524.4:c.-480del
MANE Select
NP_000515.2:n.-480del
Search 100 bp 5'
Search 100 bp 3'