Canonical Allele Identifier: PA2825041387
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 2447177
ClinVar RCV Id: RCV003165100
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000048.1:p.Leu966Phe
CA7738892
NM_000057.4:c.2896C>T