Canonical Allele Identifier: PA916016137
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 133698
ClinVar RCV Id: RCV000120226 RCV000568596 RCV000628631 RCV001030455
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274176.1:p.Arg791Cys
CA157382
NM_001287247.2:c.2371C>T