Allele Registry

Canonical Allele Identifier: PA275528

Gene: PYGM HGNC NCBI

ClinVar RCV:

RCV000185576

RCV000723508

RCV001822854

ClinVar Variation:

203394

HGVS (amino-acid)	Matching Registered Transcripts
NP_005600.1:p.Ala365Val	CA275527 NM_005609.4:c.1094C>T