Canonical Allele Identifier: PA645487887
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 405307
ClinVar RCV Id: RCV000460689 RCV001018434 RCV001821232 RCV003477941
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000048.1:p.Tyr296Cys
CA7738384
NM_000057.4:c.887A>G