Canonical Allele Identifier: PA658802528
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 524776
ClinVar RCV Id: RCV000628639

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000048.1:p.Ile732Phe
CA393844767
NM_000057.4:c.2194A>T