Canonical Allele Identifier: PA2826741028
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 133697
ClinVar RCV Id: RCV000120225 RCV000469034 RCV000566842 RCV000731068 RCV003492521 RCV003905143
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274177.1:p.Lys380Glu
CA157379
NM_001287248.2:c.1138A>G