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Canonical Allele Identifier: Get Identifier
Gene: HMBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001245138.1:p.[Pro191_Tyr196delinsLeuArgAsn;Val198_Gly203del;Ser205_Val208delinsMetLeuTrp;Val210_Thr212delinsArgLysGlu;Met214_Gly217delinsAlaValCys;Tyr220_Leu221del]
CA2573146996
NM_001258209.2:c.572del