Canonical Allele Identifier: PA658802590
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 524764
ClinVar RCV Id: RCV000628625 RCV002358750 RCV003237958
ClinVar Variation Id: 824387
ClinVar RCV Id: RCV001021448 RCV001303467
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000048.1:p.Gly1308Arg
CA7739162
NM_000057.4:c.3922G>A
CA393850611
NM_000057.4:c.3922G>C