Canonical Allele Identifier: PA658678251
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 454146
ClinVar RCV Id: RCV000526229 RCV002376977
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000048.1:p.Phe1326Ile
CA393850992
NM_000057.4:c.3976T>A