ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829721017
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000165320
RCV000200747
RCV001290537
RCV003321532
RCV003333739
ClinVar Variation:
185826
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Arg1028Leu
CA002022
NM_007300.4:c.3083G>T