Canonical Allele Identifier: PA2580196254
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 1719470
ClinVar RCV Id: RCV002303745

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274176.1:p.Leu341Ile
CA393842116
NM_001287247.2:c.1021C>A