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Canonical Allele Identifier: Get Identifier
Gene: BLM HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000454158.1:p.[Lys1207_Arg1217delinsArgCysGlnProProLysGlyLeuArgGlyGlu;Thr1219_Lys1227delinsLeuLeuProValValProArgGlnArg;Ser1230_Ile1236delinsLeuProHisValGluArgTyr]
CA2731532153
ENST00000560509.5:c.3620del