Allele Registry

Canonical Allele Identifier: PA104454

Gene: PYGM HGNC NCBI

ClinVar RCV:

RCV000002389

RCV000414632

ClinVar Variation:

2299

HGVS (amino-acid)	Matching Registered Transcripts
NP_005600.1:p.Gly205Ser	CA339962 NM_005609.4:c.613G>A