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Canonical Allele Identifier: Get Identifier
Gene: BLM HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274175.1:p.[Arg1348Lys;Thr1350_Lys1358delinsLeuLeuProValValProArgGlnArg;Ser1361_Ser1369delinsLeuProHisValGluArgTyrLeuPro;Thr1371_Ile1377delinsArgAsnProProAlaSerLeu]
CA619860819
NM_001287246.2:c.4043del