Allele Registry

Canonical Allele Identifier: PA2826002286

Gene: PYGM HGNC NCBI

ClinVar RCV:

RCV000493384

RCV000669086

ClinVar Variation:

430153

HGVS (amino-acid)	Matching Registered Transcripts
NP_001158188.1:p.Arg683Gln	CA6079570 NM_001164716.1:c.2048G>A