Canonical Allele Identifier: PA2825042029
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 1060609
ClinVar RCV Id: RCV001370065
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000048.1:p.Pro1320His
CA393850886
NM_000057.4:c.3959C>A