This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: BLM HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000506682.1:p.[Ala1351_Lys1358delinsLeuLeuProValValProArgGlnArgAsp;Trp1360Val;Phe1362delinsProCysCys;Met1364_Ser1372delinsGlyTrpSerGlnThrProGluLeuLys]
CA274728978
ENST00000681142.1:c.4049_4050dup