Canonical Allele Identifier: PA913191905
Gene: BLM HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000048.1:p.Val1085Leu
CA7738977
NM_000057.4:c.3253G>T
CA393847190
NM_000057.4:c.3253G>C