×
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
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA2673999532
Gene: HTR1A
HGNC
NCBI
Linked Data
gnomAD v4:
5-63962206-T-TC
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.63962207dup , CM000667.2:g.63962207dup
GRCh38
NC_000005.9:g.63258034dup , CM000667.1:g.63258034dup
GRCh37
NC_000005.8:g.63293790dup
NCBI36
NG_032816.1:g.5086dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000323865.5:c.-488dup
MANE Select
ENSP00000316244.4:n.-488dup
ENST00000506598.1:c.-387-101dup
ENSP00000423433.1:n.-387-101dup
NM_000524.3:c.-488dup
NP_000515.2:n.-488dup
NM_000524.4:c.-488dup
MANE Select
NP_000515.2:n.-488dup
Search 100 bp 5'
Search 100 bp 3'