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Canonical Allele Identifier: Get Identifier
Gene: BLM HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274176.1:p.[Gly1175Ala;Gly1177_Ile1188delinsGluGluValProLeuArgSerSerThrArgLysTyr;Val1190_Ser1197delinsTyrLeuProThrThrLeuGlnVal;Thr1199_Lys1204delinsProGluMetLysGlyArg]
CA7739159
NM_001287247.2:c.3524del