Canonical Allele Identifier: PA2826738957
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 133705
ClinVar RCV Id: RCV000120234 RCV000806844 RCV004019670
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274175.1:p.Ser1368Pro
CA157406
NM_001287246.2:c.4102T>C