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Canonical Allele Identifier: Get Identifier
Gene: GALC HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000261304.2:p.[Tyr192del;Gly194_Glu198delinsLeuGluPheGlyMet;Ser200_Tyr205delinsGlyHisIleMetPro;Lys207del;Lys211_Asn214del;Gln216_Val221del]
CA615278292
ENST00000261304.7:c.574del