Allele Registry

Canonical Allele Identifier: PA915988812

Gene: PYGM HGNC NCBI

ClinVar RCV:

RCV000523818

RCV000812757

ClinVar Variation:

449640

HGVS (amino-acid)	Matching Registered Transcripts
NP_001158188.1:p.Gly85Arg	CA6080233 NM_001164716.1:c.253G>A CA381108809 NM_001164716.1:c.253G>C