ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829690796
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000077510
RCV000129301
RCV000658781
RCV001340841
RCV001354681
RCV001800355
ClinVar Variation:
54487
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Arg681Lys
CA001458
NM_007297.4:c.2042G>A