Canonical Allele Identifier: PA2826736382
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 405277
ClinVar RCV Id: RCV000472724 RCV001024105 RCV003492048
ClinVar Variation Id: 1747407
ClinVar RCV Id: RCV002349459
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274175.1:p.Ser181Arg
CA7738307
NM_001287246.2:c.543C>A
CA393841014
NM_001287246.2:c.541A>C
CA393841018
NM_001287246.2:c.543C>G