Canonical Allele Identifier: PA916016078
Gene: BLM HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274176.1:p.Tyr736del
CA7738697
NM_001287247.2:c.2207_2209del
CA274741639
NM_001287247.2:c.2208T>G
CA393844794
NM_001287247.2:c.2208T>A
CA2580610782
NM_001287247.2:c.2208_2209delinsGA
CA2580613321
NM_001287247.2:c.2208_2212delinsGATTC