ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829708718
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000166853
RCV001076448
RCV002516510
ClinVar Variation:
187156
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Tyr1737Ser
CA003270
NM_007300.4:c.5210A>C