Allele Registry

Canonical Allele Identifier: PA234753

Gene: PYGM HGNC NCBI

ClinVar RCV:

RCV000370261

RCV000723895

RCV003895051

ClinVar Variation:

167552

HGVS (amino-acid)	Matching Registered Transcripts
NP_005600.1:p.Asn283Ser	CA234752 NM_005609.4:c.848A>G