Canonical Allele Identifier: PA2825041467
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 2561130
ClinVar RCV Id: RCV003300852

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000048.1:p.His1013Gln
CA393846692
NM_000057.4:c.3039T>A
CA393846693
NM_000057.4:c.3039T>G