Allele Registry

Canonical Allele Identifier: PA645492106

Gene: SMCHD1 HGNC NCBI

ClinVar RCV:

RCV000321018

RCV000725767

RCV000850315

RCV001859637

ClinVar Variation:

286021

HGVS (amino-acid)	Matching Registered Transcripts
NP_056110.2:p.Ile1070Thr	CA8871151 NM_015295.3:c.3209T>C