Canonical Allele Identifier: PA2825040965
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 1787797
ClinVar RCV Id: RCV002425894 RCV003098718
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000048.1:p.Thr738Ile
CA393844803
NM_000057.4:c.2213C>T