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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:
CA2622960242
Gene: HTR2A
HGNC
NCBI
Linked Data
gnomAD v4:
13-46897078-CCTCCCTCTATGTGTATGTCATAAGCTGCAAGGTAGCAACAGCCAGGAGGGCGGACCAAACAGGCTTTTTCTT-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.46897087_46897158del , CM000675.2:g.46897087_46897158del
GRCh38
NC_000013.10:g.47471222_47471293del , CM000675.1:g.47471222_47471293del
GRCh37
NC_000013.9:g.46369223_46369294del
NCBI36
NG_013011.1:g.4885_4956del
Transcript Alleles
HGVS
Amino-acid change
NM_001378924.1:c.-329+802_-328-845del
NP_001365853.1:n.-329+802_-328-845del
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