Allele Registry

Canonical Allele Identifier: PA2499242016

Gene: GALC HGNC NCBI

ClinVar RCV:

RCV001377131

RCV001949562

RCV003481102

ClinVar Variation:

1066196

1458657

HGVS (amino-acid)	Matching Registered Transcripts
NP_001188330.1:p.Met94Leu	CA390752762 NM_001201401.2:c.280A>T CA390752765 NM_001201401.2:c.280A>C