Canonical Allele Identifier: PA916015844
Gene: BLM HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274176.1:p.Met348Ile
CA7738414
NM_001287247.2:c.1044G>A
CA393842167
NM_001287247.2:c.1044G>C
CA393842168
NM_001287247.2:c.1044G>T