ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA194647
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
186373
ClinVar RCV Id:
RCV000165957
RCV000196543
RCV001575053
RCV003995465
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Lys996Arg
CA001940
NM_007294.4:c.2987A>G