Allele Registry

Canonical Allele Identifier: PA645390322

Gene: PYGM HGNC NCBI

ClinVar RCV:

RCV000245345

RCV000296404

RCV001722323

ClinVar Variation:

259833

HGVS (amino-acid)	Matching Registered Transcripts
NP_005600.1:p.Val624Ile	CA6079690 NM_005609.4:c.1870G>A