Canonical Allele Identifier: PA2826738187
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 405324
ClinVar RCV Id: RCV000465861 RCV001018059 RCV003477943
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274175.1:p.Ile1005Val
CA7738907
NM_001287246.2:c.3013A>G