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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:
CA2709090242
Gene: HTR1A
HGNC
NCBI
Linked Data
dbSNP Id:
rs1276052711
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.63960091G>A , CM000667.2:g.63960091G>A
GRCh38
NC_000005.9:g.63255918G>A , CM000667.1:g.63255918G>A
GRCh37
NC_000005.8:g.63291674G>A
NCBI36
NG_032816.1:g.7202C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000323865.5:c.*360C>T
MANE Select
ENSP00000316244.4:n.*360C>T
NM_000524.3:c.*360C>T
NP_000515.2:n.*360C>T
NM_000524.4:c.*360C>T
MANE Select
NP_000515.2:n.*360C>T
Search 100 bp 5'
Search 100 bp 3'