Canonical Allele Identifier: PA916015898
Gene: BLM HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274176.1:p.Phe492Leu
CA7738540
NM_001287247.2:c.1474T>C
CA393843139
NM_001287247.2:c.1476C>A
CA393843140
NM_001287247.2:c.1476C>G