Allele Registry

Canonical Allele Identifier: PA645390235

Gene: PYGM HGNC NCBI

ClinVar RCV:

RCV000368305

RCV001086488

ClinVar Variation:

281742

HGVS (amino-acid)	Matching Registered Transcripts
NP_005600.1:p.Arg387His	CA6079984 NM_005609.4:c.1160G>A