Allele Registry

Canonical Allele Identifier: PA658812283

Gene: SMCHD1 HGNC NCBI

ClinVar Variation Id: 498376

HGVS (amino-acid)	Matching Registered Transcripts
NP_056110.2:p.Met399Ile	CA401697203 NM_015295.3:c.1197G>A CA401697204 NM_015295.3:c.1197G>C CA401697207 NM_015295.3:c.1197G>T