Canonical Allele Identifier: PA2826254223
Gene: GALC HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001188330.1:p.Gly597Arg
CA7296890
NM_001201401.2:c.1789G>A
CA390745511
NM_001201401.2:c.1789G>C