Canonical Allele Identifier: PA645487870
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 405277
ClinVar RCV Id: RCV000472724 RCV001024105 RCV003492048
ClinVar Variation Id: 1747407
ClinVar RCV Id: RCV002349459
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000048.1:p.Ser181Arg
CA7738307
NM_000057.4:c.543C>A
CA393841014
NM_000057.4:c.541A>C
CA393841018
NM_000057.4:c.543C>G