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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:
CA1551421503
Gene: HTR1A
HGNC
NCBI
Linked Data
dbSNP Id:
rs1746454637
gnomAD v4:
5-63962193-CCTCTCTTCT-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.63962203_63962211del , CM000667.2:g.63962203_63962211del
GRCh38
NC_000005.9:g.63258030_63258038del , CM000667.1:g.63258030_63258038del
GRCh37
NC_000005.8:g.63293786_63293794del
NCBI36
NG_032816.1:g.5091_5099del
Transcript Alleles
HGVS
Amino-acid change
ENST00000323865.5:c.-483_-475del
MANE Select
ENSP00000316244.4:n.-483_-475del
ENST00000506598.1:c.-387-96_-387-88del
ENSP00000423433.1:n.-387-96_-387-88del
NM_000524.3:c.-483_-475del
NP_000515.2:n.-483_-475del
NM_000524.4:c.-483_-475del
MANE Select
NP_000515.2:n.-483_-475del
Search 100 bp 5'
Search 100 bp 3'