Canonical Allele Identifier: PA2825040255
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 1464262
ClinVar RCV Id: RCV001975407
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000048.1:p.Leu341Phe
CA393842118
NM_000057.4:c.1021C>T