Allele Registry

Canonical Allele Identifier: PA658678055

Gene: PYGM HGNC NCBI

ClinVar RCV:

RCV000523818

RCV000812757

ClinVar Variation:

449640

HGVS (amino-acid)	Matching Registered Transcripts
NP_005600.1:p.Gly173Arg	CA6080233 NM_005609.4:c.517G>A CA381108809 NM_005609.4:c.517G>C