Canonical Allele Identifier: PA2826254292
Gene: GALC HGNC NCBI

Linked Data

ClinVar Variation Id: 2683272
ClinVar RCV Id: RCV003480092
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001188330.1:p.Arg662Cys
CA7296824
NM_001201401.2:c.1984C>T