Allele Registry

Canonical Allele Identifier: PA645402174

Gene: GNPAT HGNC NCBI

ClinVar RCV:

RCV000960456

RCV001001730

RCV002520463

ClinVar Variation:

296136

HGVS (amino-acid)	Matching Registered Transcripts
NP_055051.1:p.Ala631Val	CA1452160 NM_014236.4:c.1892C>T