Canonical Allele Identifier: PA2826740759
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 454087
ClinVar RCV Id: RCV000553465 RCV001013273
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274177.1:p.Pro234Thr
CA7738589
NM_001287248.2:c.700C>A