Canonical Allele Identifier: PA2825042059
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 835346
ClinVar Variation Id: 2186279
ClinVar RCV Id: RCV002606517

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000048.1:p.Met1339Ile
CA393851276
NM_000057.4:c.4017G>A
CA393851278
NM_000057.4:c.4017G>T
CA393851282
NM_000057.4:c.4017G>C