Canonical Allele Identifier: PA2825040966
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 803134
ClinVar RCV Id: RCV000989391

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000048.1:p.Thr738delinsIlePro
CA7738700
NM_000057.4:c.2212_2213insTTC