Allele Registry

Canonical Allele Identifier: PA2826002194

Gene: PYGM HGNC NCBI

ClinVar RCV:

RCV000002393

RCV003441700

ClinVar Variation:

2303

HGVS (amino-acid)	Matching Registered Transcripts
NP_001158188.1:p.Gln578Glu	CA252201 NM_001164716.1:c.1732C>G