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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.[Gly216_Gln217delinsGluPro;Ala219Gly;Val222_Ile231delinsArgGlySerAlaSerGlnGlyProGlyHis;Asp233_Val235delinsGlySerGly;Val237_Leu245delinsCysAlaAlaArgSerArgAspSerAla]
CA2695215819
NM_000190.4:c.646_647insA