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Canonical Allele Identifier: Get Identifier
Gene: HMBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000392041.3:p.[Gly210_Gln211delinsGluPro;Ala213Gly;Val216_Ile225delinsArgGlySerAlaSerGlnGlyProGlyHis;Asp227_Val229delinsGlySerGly;Val231_Leu239delinsCysAlaAlaArgSerArgAspSerAla]
CA2695215819
ENST00000442944.7:c.628_629insA