Canonical Allele Identifier: PA2826741222
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 281221
ClinVar RCV Id: RCV000264848 RCV000543633 RCV000565904 RCV003153549
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274177.1:p.Lys464Glu
CA7738795
NM_001287248.2:c.1390A>G