Canonical Allele Identifier: PA2826738931
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 133704
ClinVar RCV Id: RCV000120233 RCV002514625
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274175.1:p.Ala1357Pro
CA157403
NM_001287246.2:c.4069G>C