Allele Registry

Canonical Allele Identifier: PA266198

Gene: SMCHD1 HGNC NCBI

ClinVar RCV:

RCV000074384

ClinVar Variation:

88705

HGVS (amino-acid)	Matching Registered Transcripts
NP_056110.2:p.Thr527Met	CA266197 NM_015295.3:c.1580C>T