Canonical Allele Identifier: PA2826737903
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 405297
ClinVar Variation Id: 2566806
ClinVar RCV Id: RCV003306749

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274175.1:p.Lys873Asn
CA7738831
NM_001287246.2:c.2619G>C
CA393845729
NM_001287246.2:c.2619G>T