Allele Registry

Canonical Allele Identifier: PA645491979

Gene: SMCHD1 HGNC NCBI

ClinVar Allele:

269045

ClinVar RCV:

RCV000306911

RCV001407288

ClinVar Variation:

284808

HGVS (amino-acid)	Matching Registered Transcripts
NP_056110.2:p.Pro329Thr	CA8870666 NM_015295.3:c.985C>A