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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:
CA2673999539
Gene: HTR1A
HGNC
NCBI
Linked Data
gnomAD v4:
5-63962209-T-TC
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.63962210dup , CM000667.2:g.63962210dup
GRCh38
NC_000005.9:g.63258037dup , CM000667.1:g.63258037dup
GRCh37
NC_000005.8:g.63293793dup
NCBI36
NG_032816.1:g.5083dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000323865.5:c.-491dup
MANE Select
ENSP00000316244.4:n.-491dup
ENST00000506598.1:c.-387-104dup
ENSP00000423433.1:n.-387-104dup
NM_000524.3:c.-491dup
NP_000515.2:n.-491dup
NM_000524.4:c.-491dup
MANE Select
NP_000515.2:n.-491dup
Search 100 bp 5'
Search 100 bp 3'