Allele Registry

Canonical Allele Identifier: PA645390304

Gene: PYGM HGNC NCBI

ClinVar RCV:

RCV000480329

RCV000675078

ClinVar Variation:

424518

HGVS (amino-acid)	Matching Registered Transcripts
NP_005600.1:p.Pro489Ser	CA6079853 NM_005609.4:c.1465C>T