Canonical Allele Identifier: PA2826254140
Gene: GALC HGNC NCBI

Linked Data

ClinVar Variation Id: 167119
ClinVar RCV Id: RCV000153296 RCV000174662
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001188330.1:p.Arg508His
CA234058
NM_001201401.2:c.1523G>A