Allele Registry

Canonical Allele Identifier: PA2826002106

Gene: PYGM HGNC NCBI

ClinVar RCV:

RCV000002390

RCV000723828

ClinVar Variation:

2300

HGVS (amino-acid)	Matching Registered Transcripts
NP_001158188.1:p.Lys455Thr	CA339963 NM_001164716.1:c.1364A>C