Allele Registry

Canonical Allele Identifier: PA097692

Gene: SMCHD1 HGNC NCBI

ClinVar RCV:

RCV000033083

ClinVar Variation:

39856

HGVS (amino-acid)	Matching Registered Transcripts
NP_056110.2:p.Pro690Ser	CA261232 NM_015295.3:c.2068C>T