Allele Registry

Canonical Allele Identifier: PA645491995

Gene: SMCHD1 HGNC NCBI

ClinVar RCV:

RCV000417236

ClinVar Variation:

375761

HGVS (amino-acid)	Matching Registered Transcripts
NP_056110.2:p.His348Arg	CA16602276 NM_015295.3:c.1043A>G