Canonical Allele Identifier: PA658678238
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 454144
ClinVar RCV Id: RCV001021321 RCV000534742 RCV001821469 RCV002280123
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000048.1:p.Ser1290Leu
CA274727854
NM_000057.4:c.3869C>T