Allele Registry

Canonical Allele Identifier: PA2830288174

Gene: PEMT HGNC NCBI

ClinVar RCV:

RCV001693056

ClinVar Variation:

1279483

HGVS (amino-acid)	Matching Registered Transcripts
NP_680478.1:p.Val175Met	CA8417709 NM_148173.2:c.523G>A