Allele Registry

Canonical Allele Identifier: PA2826002145

Gene: PYGM HGNC NCBI

ClinVar RCV:

RCV000675629

RCV001103026

ClinVar Variation:

291069

HGVS (amino-acid)	Matching Registered Transcripts
NP_001158188.1:p.Asn508Ser	CA6079735 NM_001164716.1:c.1523A>G