Allele Registry

Canonical Allele Identifier: PA645491922

Gene: SMCHD1 HGNC NCBI

ClinVar RCV:

RCV000417296

RCV000417337

ClinVar Variation:

375765

HGVS (amino-acid)	Matching Registered Transcripts
NP_056110.2:p.Gly137Glu	CA16602280 NM_015295.3:c.410G>A