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Canonical Allele Identifier: Get Identifier
Gene: HMBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000444817.1:p.[Pro77_Trp78insCysLeuGlnPheGluIleSerGluPheSerGlyLysGlu;Pro79_Ala80delinsLysLeuMetGlySerPro;Val81_Ter82insProArgGluGluArgThrGlnHisPhe]
CA2695215710
ENST00000542822.5:c.234del