Canonical Allele Identifier: PA2741843085
Gene: GALC HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001188330.1:p.Gly83Arg
CA7297436
NM_001201401.2:c.247G>A
CA390753187
NM_001201401.2:c.247G>C