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Canonical Allele Identifier: Get Identifier
Gene: GALC HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000437513.2:p.[Tyr136del;Gly138_Glu142delinsLeuGluPheGlyMet;Ser144_Tyr149delinsGlyHisIleMetPro;Lys151del;Lys155_Asn158del;Gln160_Val165del]
CA615278292
ENST00000544807.6:c.406del