Canonical Allele Identifier: PA645487951
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_000048.1:p.Lys873Asn
CA7738831
NM_000057.4:c.2619G>C
CA393845729
NM_000057.4:c.2619G>T