Canonical Allele Identifier: PA2826254156
Gene: GALC HGNC NCBI

Linked Data

ClinVar Variation Id: 189113
ClinVar RCV Id: RCV000169525 RCV003137698
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001188330.1:p.Gly530Arg
CA274392
NM_001201401.2:c.1588G>A
CA390745975
NM_001201401.2:c.1588G>C