Canonical Allele Identifier: PA2826738845
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 573831
ClinVar RCV Id: RCV000695601 RCV003163195
ClinVar Variation Id: 1736376
ClinVar RCV Id: RCV002373304
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274175.1:p.Leu1315Pro
CA393850796
NM_001287246.2:c.3944T>C
CA891843636
NM_001287246.2:c.3944_3945delinsCT