Canonical Allele Identifier: PA2825042086
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 2133299
ClinVar RCV Id: RCV003064003

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000048.1:p.Ser1355Phe
CA393851538
NM_000057.4:c.4064C>T