ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829690974
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
230102
ClinVar RCV Id:
RCV000216413
RCV000483305
RCV001057480
RCV002229928
RCV003997802
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Glu708Lys
CA10580626
NM_007297.4:c.2122G>A