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Canonical Allele Identifier: Get Identifier
Gene: HEXA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000508336.1:p.[Gln35_Asn43delinsSerAlaThrSerPheThrArgThrThr;Gln45_Gln55delinsAsnSerSerThrMetSerAlaArgProArgSer;Gly57_Ala64delinsAlaAlaGlnSerSerThrArgPro]
CA2580089943
ENST00000683735.1:c.103del