Canonical Allele Identifier: PA2825041432
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 1798403
ClinVar RCV Id: RCV002442217
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000048.1:p.Thr994Lys
CA2580090278
NM_000057.4:c.2981_2982delinsAG