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Canonical Allele Identifier: Get Identifier
Gene: GALC HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000452314.1:p.[Tyr192del;Gly194_Glu198delinsLeuGluPheGlyMet;Ser200_Tyr205delinsGlyHisIleMetProIle;Lys207_Val208delinsLeuArg;Gly210Leu;Glu211_Ter212insAsnArgTrpTyrLeuValThr]
CA615278292
ENST00000557316.5:c.574del