Allele Registry

Canonical Allele Identifier: PA2826002203

Gene: PYGM HGNC NCBI

ClinVar RCV:

RCV000175191

RCV002516665

ClinVar Variation:

194750

HGVS (amino-acid)	Matching Registered Transcripts
NP_001158188.1:p.Ser587Leu	CA240894 NM_001164716.1:c.1760C>T