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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:
CA249263550
Gene: HTR2A
HGNC
NCBI
Linked Data
dbSNP Id:
rs745577471
gnomAD v2:
13-47471463-AGTGCTGTG-A
gnomAD v3:
13-46897328-AGTGCTGTG-A
gnomAD v4:
13-46897328-AGTGCTGTG-A
MyVariant Identifiers:
chr13:g.47471464_47471471del (hg19)
chr13:g.46897329_46897336del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.46897329_46897336del , CM000675.2:g.46897329_46897336del
GRCh38
NC_000013.10:g.47471464_47471471del , CM000675.1:g.47471464_47471471del
GRCh37
NC_000013.9:g.46369465_46369472del
NCBI36
NG_013011.1:g.4699_4706del
Transcript Alleles
HGVS
Amino-acid change
NM_001378924.1:c.-329+616_-329+623del
NP_001365853.1:n.-329+616_-329+623del
Search 100 bp 5'
Search 100 bp 3'