Allele Registry

Canonical Allele Identifier: PA240895

Gene: PYGM HGNC NCBI

ClinVar RCV:

RCV000175191

RCV002516665

ClinVar Variation:

194750

HGVS (amino-acid)	Matching Registered Transcripts
NP_005600.1:p.Ser675Leu	CA240894 NM_005609.4:c.2024C>T