Allele Registry

Canonical Allele Identifier: PA2825964830

Gene: PYGL HGNC NCBI

ClinVar RCV:

RCV000012775

ClinVar Variation:

11995

HGVS (amino-acid)	Matching Registered Transcripts
NP_001157412.1:p.Asn343Lys	CA341171 NM_001163940.2:c.1029C>G CA389688739 NM_001163940.2:c.1029C>A