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: PA2573200197

Gene: SMARCD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1387509

ClinVar RCV Id: RCV001884088

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Transcript change
NP_001317369.1:p.Arg85Gln