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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:
CA1076832643
Gene: HTR1A
HGNC
NCBI
Linked Data
dbSNP Id:
rs1746454637
gnomAD v3:
5-63962193-C-CCTCTCTTCT
gnomAD v4:
5-63962193-C-CCTCTCTTCT
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.63962203_63962211dup , CM000667.2:g.63962203_63962211dup
GRCh38
NC_000005.9:g.63258030_63258038dup , CM000667.1:g.63258030_63258038dup
GRCh37
NC_000005.8:g.63293786_63293794dup
NCBI36
NG_032816.1:g.5091_5099dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000323865.5:c.-483_-475dup
MANE Select
ENSP00000316244.4:n.-483_-475dup
ENST00000506598.1:c.-387-96_-387-88dup
ENSP00000423433.1:n.-387-96_-387-88dup
NM_000524.3:c.-483_-475dup
NP_000515.2:n.-483_-475dup
NM_000524.4:c.-483_-475dup
MANE Select
NP_000515.2:n.-483_-475dup
Search 100 bp 5'
Search 100 bp 3'