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Canonical Allele Identifier: Get Identifier
Gene: HMBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000438424.1:p.[Gln288_Asn293delinsValGlyCysProGlu;Ile296_Asn300delinsHisGlnProGlyGln;Leu302_Leu317delinsValAlaGluGlnArgSerGlnLysHisProGlyCysCysThrAlaAla]
CA2499220803
ENST00000544387.5:c.862_863del