ClinGen Allele Registry
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Canonical Allele Identifier:
PA916016666
Gene: BLM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
485342
ClinVar RCV Id:
RCV000568146
RCV001227793
RCV003392414
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274177.1:p.Lys981Arg
CA274729005
NM_001287248.2:c.2942A>G