Canonical Allele Identifier: PA916016400
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 571736
ClinVar RCV Id: RCV000692961

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274177.1:p.Ile630Met
CA393846620
NM_001287248.2:c.1890A>G