Allele Registry

Canonical Allele Identifier: PA2826083029

Gene: PGM1 HGNC NCBI

ClinVar Allele:

195644

ClinVar RCV:

RCV000179849

RCV000344895

RCV000385150

ClinVar Variation:

198483

HGVS (amino-acid)	Matching Registered Transcripts
NP_001166290.1:p.Ala171Val	CA247153 NM_001172819.2:c.512C>T