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Canonical Allele Identifier: Get Identifier
Gene: GALC HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000377199.2:p.[Tyr166del;Gly168_Glu172delinsLeuGluPheGlyMet;Ser174_Tyr179delinsGlyHisIleMetPro;Lys181del;Lys185_Asn188del;Gln190_Val195del]
CA615278292
ENST00000393569.6:c.496del