ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829716404
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000165675
RCV001041837
RCV001077384
ClinVar Variation:
186137
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009230.2:p.Asn678Ser
CA003583
NM_007299.4:c.2033A>G