ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826740874
Gene: BLM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
188963
ClinVar RCV Id:
RCV000169338
RCV001014085
RCV001310295
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274177.1:p.Gln297Arg
CA274191
NM_001287248.2:c.890A>G