Canonical Allele Identifier: PA235945
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 191064
ClinVar RCV Id: RCV000171242 RCV001014270 RCV000673383 RCV002298500
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000048.1:p.Glu69Lys
CA235943
NM_000057.4:c.205G>A