Canonical Allele Identifier: PA2826739805
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 5457
ClinVar RCV Id: RCV000005790

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274176.1:p.Cys1036Phe
CA253496
NM_001287247.2:c.3107G>T