Canonical Allele Identifier: PA2825041441
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 2443083
ClinVar RCV Id: RCV003151475

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000048.1:p.Asp997Glu
CA393846570
NM_000057.4:c.2991T>A
CA393846571
NM_000057.4:c.2991T>G