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Canonical Allele Identifier: Get Identifier
Gene: HEXA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305754.1:p.[Ser9_Leu12delinsAla;Ala15_Gly18delinsGlyGlySerVal;Ala20Arg;Ala22_Trp24delinsGlyAspGly;Trp26_Gln35delinsLeuAlaLeuAlaSerGluLeuProAsnLeu;Tyr37_Val38delinsProAla;Leu39_Tyr40insArgLeu]
CA16041744
NM_001318825.2:c.24_25del