Allele Registry

Canonical Allele Identifier: PA645390378

Gene: PYGM HGNC NCBI

ClinVar RCV:

RCV000493384

RCV000669086

ClinVar Variation:

430153

HGVS (amino-acid)	Matching Registered Transcripts
NP_005600.1:p.Arg771Gln	CA6079570 NM_005609.4:c.2312G>A