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Canonical Allele Identifier: Get Identifier
Gene: HMBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_005271590.1:p.[Gly198_Gln199delinsGluPro;Ala201Gly;Val204_Ile213delinsArgGlySerAlaSerGlnGlyProGlyHis;Asp215_Val217delinsGlySerGly;Val219_Leu227delinsCysAlaAlaArgSerArgAspSerAla]
CA2695215819
XM_005271533.3:c.592_593insA