Allele Registry

Canonical Allele Identifier: PA2826002178

Gene: PYGM HGNC NCBI

ClinVar RCV:

RCV000319373

RCV000657929

RCV001088058

RCV002519079

ClinVar Variation:

281045

HGVS (amino-acid)	Matching Registered Transcripts
NP_001158188.1:p.Arg554Cys	CA6079674 NM_001164716.1:c.1660C>T