Canonical Allele Identifier: PA658678162
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 485354
ClinVar RCV Id: RCV000567485 RCV000628636
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000048.1:p.Val1027Ile
CA393846783
NM_000057.4:c.3079G>A