Allele Registry

Canonical Allele Identifier: PA645390212

Gene: PYGM HGNC NCBI

ClinVar RCV:

RCV000494108

RCV001036939

RCV003409682

ClinVar Variation:

430154

HGVS (amino-acid)	Matching Registered Transcripts
NP_005600.1:p.Glu383Lys	CA6079985 NM_005609.4:c.1147G>A