Canonical Allele Identifier: PA658678256
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 485342
ClinVar RCV Id: RCV000568146 RCV001227793 RCV003392414
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000048.1:p.Lys1356Arg
CA274729005
NM_000057.4:c.4067A>G