Canonical Allele Identifier: PA916016318
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 405274
ClinVar RCV Id: RCV000466196
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274176.1:p.Thr994Ala
CA16614964
NM_001287247.2:c.2980A>G