Canonical Allele Identifier: PA2826739862
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 2756441
ClinVar RCV Id: RCV003504892
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274176.1:p.Cys1063Phe
CA393847033
NM_001287247.2:c.3188G>T