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: PA2825287424

Gene: SMARCB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 638627

ClinVar RCV Id: RCV000791312

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001007469.1:p.Arg368Gly	CA410914598 NM_001007468.3:c.1102C>G