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Canonical Allele Identifier: Get Identifier
Gene: HMBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000181.2:p.[Leu329_Asn333delinsPheGlyCysProGlu;Ile336_Asn340delinsHisGlnProGlyGln;Leu342_Asn358delinsValAlaGluGlnArgSerGlnLysHisProGlyCysCysThrAlaAla]
CA2695215762
NM_000190.4:c.986dup