Allele Registry

Canonical Allele Identifier: PA645492004

Gene: SMCHD1 HGNC NCBI

ClinVar RCV:

RCV000417324

RCV000497004

RCV000497016

ClinVar Variation:

375763

HGVS (amino-acid)	Matching Registered Transcripts
NP_056110.2:p.Gln400Leu	CA16602278 NM_015295.3:c.1199A>T