Canonical Allele Identifier: PA2825041474
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 1683324
ClinVar RCV Id: RCV002238623 RCV002443273 RCV003093921
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000048.1:p.Arg1016Thr
CA393846708
NM_000057.4:c.3047G>C