Canonical Allele Identifier: PA2573163100
Gene: GALC HGNC NCBI

Linked Data

ClinVar Variation Id: 1593684
ClinVar RCV Id: RCV002115157 RCV003025387
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000144.2:p.Arg685His
CA7296823
NM_000153.4:c.2054G>A