Allele Registry

Canonical Allele Identifier: PA222883

Gene: PYGM HGNC NCBI

ClinVar RCV:

RCV000081305

RCV001047041

ClinVar Variation:

95291

HGVS (amino-acid)	Matching Registered Transcripts
NP_005600.1:p.Pro489Arg	CA222882 NM_005609.4:c.1466C>G