Canonical Allele Identifier: PA2826741292
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 405297
ClinVar RCV Id: RCV000469889 RCV000570597 RCV003105908
ClinVar Variation Id: 2566806
ClinVar RCV Id: RCV003306749
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274177.1:p.Lys498Asn
CA7738831
NM_001287248.2:c.1494G>C
CA393845729
NM_001287248.2:c.1494G>T