Allele Registry

Canonical Allele Identifier: PA240093

Gene: PYGM HGNC NCBI

ClinVar RCV:

RCV000509394

RCV000675632

RCV001849178

RCV003330533

RCV003430725

ClinVar Variation:

194233

HGVS (amino-acid)	Matching Registered Transcripts
NP_005600.1:p.Ile513Val	CA240092 NM_005609.4:c.1537A>G