ClinGen Allele Registry
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Canonical Allele Identifier:
PA194255
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000165814
RCV000203862
RCV000411367
RCV000759525
RCV001170594
RCV001193747
RCV001354503
RCV002485026
ClinVar Variation:
186252
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Ser1253Cys
CA002409
NM_007294.4:c.3758C>G