Allele Registry

Canonical Allele Identifier: PA645492006

Gene: SMCHD1 HGNC NCBI

ClinVar RCV:

RCV000361350

ClinVar Variation:

291312

HGVS (amino-acid)	Matching Registered Transcripts
NP_056110.2:p.His430del	CA10607099 NM_015295.3:c.1289_1291del