Canonical Allele Identifier: PA2580197081
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 2019533
ClinVar RCV Id: RCV002847174
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274177.1:p.Ile630dup
CA2575836085
NM_001287248.2:c.1887_1889dup