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: PA2825287421

Gene: SMARCB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1723239

ClinVar RCV Id: RCV002308515

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001007469.1:p.Arg367Thr	CA410914548 NM_001007468.3:c.1100G>C