Canonical Allele Identifier: PA2826741112
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 133698
ClinVar RCV Id: RCV000120226 RCV000568596 RCV000628631 RCV001030455
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274177.1:p.Arg416Cys
CA157382
NM_001287248.2:c.1246C>T