Allele Registry

Canonical Allele Identifier: PA645390324

Gene: PYGM HGNC NCBI

ClinVar RCV:

RCV000319373

RCV000657929

RCV001088058

RCV002519079

ClinVar Variation:

281045

HGVS (amino-acid)	Matching Registered Transcripts
NP_005600.1:p.Arg642Cys	CA6079674 NM_005609.4:c.1924C>T