Allele Registry

Canonical Allele Identifier: PA658812268

Gene: SMCHD1 HGNC NCBI

ClinVar Allele:

488588

ClinVar RCV:

RCV000595520

RCV001454163

RCV004024703

ClinVar Variation:

497164

HGVS (amino-acid)	Matching Registered Transcripts
NP_056110.2:p.Leu309Val	CA8870660 NM_015295.3:c.925C>G