Allele Registry

Canonical Allele Identifier: PA104470

Gene: PYGM HGNC NCBI

ClinVar RCV:

RCV000002396

RCV001091628

RCV003319973

RCV003407258

ClinVar Variation:

2306

HGVS (amino-acid)	Matching Registered Transcripts
NP_005600.1:p.Gly686Arg	CA252204 NM_005609.4:c.2056G>A CA381167972 NM_005609.4:c.2056G>C