Allele Registry

Canonical Allele Identifier: PA645390321

Gene: PYGM HGNC NCBI

ClinVar RCV:

RCV000675629

RCV001103026

ClinVar Variation:

291069

HGVS (amino-acid)	Matching Registered Transcripts
NP_005600.1:p.Asn596Ser	CA6079735 NM_005609.4:c.1787A>G