Canonical Allele Identifier: PA916016408
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 236810
ClinVar RCV Id: RCV000228961 RCV000563912 RCV001538791 RCV001804962 RCV003907844
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274177.1:p.His639Arg
CA7738930
NM_001287248.2:c.1916A>G