Canonical Allele Identifier: PA916016207
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 92393
ClinVar RCV Id: RCV000078058 RCV000144575 RCV000568944 RCV000586013 RCV001824121
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274176.1:p.Pro868Leu
CA090891
NM_001287247.2:c.2603C>T