Canonical Allele Identifier: PA2826741052
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 454099
ClinVar RCV Id: RCV000526205 RCV000563745 RCV001082616 RCV001030454
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274177.1:p.Val390Ile
CA7738710
NM_001287248.2:c.1168G>A