Canonical Allele Identifier: PA2825041527
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 1719134
ClinVar RCV Id: RCV002301894

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000048.1:p.Phe1045Leu
CA393846905
NM_000057.4:c.3133T>C
CA393846910
NM_000057.4:c.3135T>A
CA393846911
NM_000057.4:c.3135T>G