Canonical Allele Identifier: PA916016675
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 133705
ClinVar RCV Id: RCV000120234 RCV000806844 RCV004019670
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274177.1:p.Ser993Pro
CA157406
NM_001287248.2:c.2977T>C