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: PA658680863

Gene: SMCHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 464162

ClinVar RCV Id: RCV000555889

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_056110.2:p.Thr401Met	CA401697270 NM_015295.3:c.1202C>T