Canonical Allele Identifier: PA2826739718
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 822481

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274176.1:p.Arg1000Thr
CA393846587
NM_001287247.2:c.2999G>C