ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645448942
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
229967
ClinVar RCV Id:
RCV000217556
RCV000228648
RCV000663105
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Lys701Arg
CA10580634
NM_007294.4:c.2102A>G