Allele Registry

Canonical Allele Identifier: PA2826001788

Gene: PYGM HGNC NCBI

ClinVar RCV:

RCV000002389

RCV000414632

ClinVar Variation:

2299

HGVS (amino-acid)	Matching Registered Transcripts
NP_001158188.1:p.Gly117Ser	CA339962 NM_001164716.1:c.349G>A