Canonical Allele Identifier: PA916016402
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 584503
ClinVar RCV Id: RCV000708667 RCV000810866
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274177.1:p.Ile630Thr
CA7738908
NM_001287248.2:c.1889T>C