Allele Registry

Canonical Allele Identifier: PA645491928

Gene: SMCHD1 HGNC NCBI

ClinVar RCV:

RCV000417278

RCV000497003

ClinVar Variation:

375762

431464

HGVS (amino-acid)	Matching Registered Transcripts
NP_056110.2:p.Leu141Phe	CA16602277 NM_015295.3:c.423G>C CA401688335 NM_015295.3:c.423G>T