Allele Registry

Canonical Allele Identifier: PA658812268

Gene: SMCHD1 HGNC NCBI

ClinVar Variation Id: 497164

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