Canonical Allele Identifier: PA2826740078
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 127505
ClinVar RCV Id: RCV000115313 RCV000628664 RCV000561783
ClinVar Variation Id: 1735910
ClinVar RCV Id: RCV002357412
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274176.1:p.Gly1167Arg
CA287118
NM_001287247.2:c.3499G>A
CA393850436
NM_001287247.2:c.3499G>C