Allele Registry

Canonical Allele Identifier: PA2826002179

Gene: PYGM HGNC NCBI

ClinVar RCV:

RCV000519020

RCV001271475

RCV002527593

ClinVar Variation:

449805

HGVS (amino-acid)	Matching Registered Transcripts
NP_001158188.1:p.Arg554His	CA6079673 NM_001164716.1:c.1661G>A