Allele Registry

Canonical Allele Identifier: PA2825066819

Gene: GALC HGNC NCBI

ClinVar RCV:

RCV001377131

RCV001949562

RCV003481102

ClinVar Variation:

1066196

1458657

HGVS (amino-acid)	Matching Registered Transcripts
NP_000144.2:p.Met117Leu	CA390752762 NM_000153.4:c.349A>T CA390752765 NM_000153.4:c.349A>C