Allele Registry

Canonical Allele Identifier: PA2826500609

Gene: PEMT HGNC NCBI

ClinVar RCV:

RCV001693056

ClinVar Variation:

1279483

HGVS (amino-acid)	Matching Registered Transcripts
NP_001254481.1:p.Ser222Asn	CA8417709 NM_001267552.1:c.665G>A