Allele Registry

Canonical Allele Identifier: PA645491912

Gene: SMCHD1 HGNC NCBI

ClinVar RCV:

RCV000417256

ClinVar Variation:

375766

HGVS (amino-acid)	Matching Registered Transcripts
NP_056110.2:p.Ser135Cys	CA16602281 NM_015295.3:c.403A>T