Allele Registry

Canonical Allele Identifier: PA104509

Gene: PYGM HGNC NCBI

ClinVar RCV:

RCV000002390

RCV000723828

ClinVar Variation:

2300

HGVS (amino-acid)	Matching Registered Transcripts
NP_005600.1:p.Lys543Thr	CA339963 NM_005609.4:c.1628A>C