Allele Registry

Canonical Allele Identifier: PA645491991

Gene: SMCHD1 HGNC NCBI

ClinVar Variation Id: 375760

HGVS (amino-acid)	Matching Registered Transcripts
NP_056110.2:p.Gln345Arg	CA16602275 NM_015295.3:c.1034A>G