Allele Registry

Canonical Allele Identifier: PA2826002016

Gene: PYGM HGNC NCBI

ClinVar RCV:

RCV000338366

RCV000671505

RCV001778878

ClinVar Variation:

283418

HGVS (amino-acid)	Matching Registered Transcripts
NP_001158188.1:p.Ser362Leu	CA6079907 NM_001164716.1:c.1085C>T