Allele Registry

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.

Canonical Allele Identifier: PA645459091

Gene: SMARCB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 372511

ClinVar RCV Id: RCV000412754 RCV000850606 RCV001533136 RCV004022158

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_003064.2:p.Arg374Gln	CA16043146 NM_003073.5:c.1121G>A