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Canonical Allele Identifier: Get Identifier
Gene: HMBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000438424.1:p.[Pro208_Tyr213delinsLeuArgAsn;Val215_Gly220del;Ser222_Val225delinsMetLeuTrp;Val227_Thr229delinsArgLysGlu;Met231_Gly234delinsAlaValCys;Tyr237_Leu238del]
CA2573146996
ENST00000544387.5:c.623del