Allele Registry

Canonical Allele Identifier: PA645390293

Gene: PYGM HGNC NCBI

ClinVar RCV:

RCV000338366

RCV000671505

RCV001778878

ClinVar Variation:

283418

HGVS (amino-acid)	Matching Registered Transcripts
NP_005600.1:p.Ser450Leu	CA6079907 NM_005609.4:c.1349C>T