ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826740697
Gene: BLM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
133713
ClinVar RCV Id:
RCV000120246
RCV000689681
RCV001012917
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274177.1:p.Thr206Ala
CA157442
NM_001287248.2:c.616A>G