Allele Registry

Canonical Allele Identifier: PA2826002315

Gene: PYGM HGNC NCBI

ClinVar RCV:

RCV000002402

RCV000081312

RCV000631182

ClinVar Variation:

2312

526617

HGVS (amino-acid)	Matching Registered Transcripts
NP_001158188.1:p.Trp710Arg	CA222889 NM_001164716.1:c.2128T>C CA6079524 NM_001164716.1:c.2128T>A