Canonical Allele Identifier: PA916016646
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 454145
ClinVar RCV Id: RCV000708669 RCV000548110 RCV002281102
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274177.1:p.His949Tyr
CA7739171
NM_001287248.2:c.2845C>T