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Canonical Allele Identifier: Get Identifier
Gene: GALC HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001188330.1:p.[Tyr169del;Gly171_Glu175delinsLeuGluPheGlyMet;Ser177_Tyr182delinsGlyHisIleMetPro;Lys184del;Lys188_Asn191del;Gln193_Val198del]
CA615278292
NM_001201401.2:c.505del