Canonical Allele Identifier: PA2826737114
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 454079
ClinVar RCV Id: RCV000535993 RCV002395272
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274175.1:p.Thr494Ile
CA393843153
NM_001287246.2:c.1481C>T