Canonical Allele Identifier: PA2826738196
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 2561130
ClinVar RCV Id: RCV003300852
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274175.1:p.His1013Gln
CA393846692
NM_001287246.2:c.3039T>A
CA393846693
NM_001287246.2:c.3039T>G