Canonical Allele Identifier: PA2826738179
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 1410176
ClinVar RCV Id: RCV001916319

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274175.1:p.Leu1004His
CA393846612
NM_001287246.2:c.3011T>A