Allele Registry

Canonical Allele Identifier: PA915992847

Gene: PGM1 HGNC NCBI

ClinVar Allele:

195644

ClinVar RCV:

RCV000179849

RCV000344895

RCV000385150

ClinVar Variation:

198483

HGVS (amino-acid)	Matching Registered Transcripts
NP_001166289.1:p.Ala386Val	CA247153 NM_001172818.1:c.1157C>T