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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:
CA1551420551
Gene: HTR1A
HGNC
NCBI
Linked Data
dbSNP Id:
rs1746395713
gnomAD v4:
5-63960220-ACT-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.63960225_63960226del , CM000667.2:g.63960225_63960226del
GRCh38
NC_000005.9:g.63256052_63256053del , CM000667.1:g.63256052_63256053del
GRCh37
NC_000005.8:g.63291808_63291809del
NCBI36
NG_032816.1:g.7071_7072del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000323865.5:c.*229_*230del
MANE Select
ENSP00000316244.4:n.*229_*230del
NM_000524.3:c.*229_*230del
NP_000515.2:n.*229_*230del
NM_000524.4:c.*229_*230del
MANE Select
NP_000515.2:n.*229_*230del
Search 100 bp 5'
Search 100 bp 3'