Allele Registry

This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.

Canonical Allele Identifier: PA916003881

Gene: GALC HGNC NCBI

ClinVar RCV:

RCV000173074

RCV000498062

ClinVar Variation:

193054

HGVS (amino-acid)	Matching Registered Transcripts
NP_001188330.1:p.Gly57Ser	CA274898 NM_001201401.2:c.169G>A