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Canonical Allele Identifier: Get Identifier
Gene: BLM HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000506117.1:p.[Lys1338_Arg1348delinsArgCysGlnProProLysGlyLeuArgGlyGlu;Thr1350_Lys1358delinsLeuLeuProValValProArgGlnArg;Ser1361_Ile1367delinsLeuProHisValGluArgTyr]
CA2731532153
ENST00000680772.1:c.4013del