Canonical Allele Identifier: PA2825041461
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 1195932
ClinVar RCV Id: RCV001559218 RCV002440797
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000048.1:p.Met1006Lys
CA393846624
NM_000057.4:c.3017T>A