ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915997489
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000204847
RCV000409383
RCV002415699
ClinVar Variation:
182140
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Phe697Ser
CA001387
NM_007300.4:c.2090T>C