Canonical Allele Identifier: PA2826740134
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 1736568
ClinVar RCV Id: RCV002357705 RCV003325603
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274176.1:p.Ser1192Pro
CA393850936
NM_001287247.2:c.3574T>C