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Canonical Allele Identifier: Get Identifier
Gene: HMBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000498044.1:p.[Ala176Val;Met178_Arg182delinsCysGlyProGlyGlyLeu;Pro184_Glu190delinsArgGlySerAlaSerGlnGly;Arg192_Thr195delinsGlyHisLeuGly;Trp197_Pro206delinsGlyGlyCysAlaAlaArgSerArg]
CA2695215814
ENST00000648026.1:c.527_530del