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Canonical Allele Identifier: Get Identifier
Gene: GALC HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001188331.1:p.[Ser200_Phe218del;Val220_Tyr228del]
CA1139663600
NM_001201402.2:c.596dup