Canonical Allele Identifier: PA916016212
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 405297
ClinVar RCV Id: RCV000469889 RCV000570597 RCV003105908
ClinVar Variation Id: 2566806
ClinVar RCV Id: RCV003306749
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274176.1:p.Lys873Asn
CA7738831
NM_001287247.2:c.2619G>C
CA393845729
NM_001287247.2:c.2619G>T