Canonical Allele Identifier: PA287120
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_000048.1:p.Gly1298Arg
CA287118
NM_000057.4:c.3892G>A
CA393850436
NM_000057.4:c.3892G>C