Canonical Allele Identifier: PA2826740185
Gene: BLM HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274176.1:p.Ser1222Arg
CA16614823
NM_001287247.2:c.3666T>A
CA393851508
NM_001287247.2:c.3664A>C
CA393851518
NM_001287247.2:c.3666T>G