ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915999167
Gene: BRCA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
409982
ClinVar RCV:
RCV000479949
RCV000571167
RCV001212358
RCV001770373
ClinVar Variation:
421966
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Ile1058Val
CA10595644
NM_007300.4:c.3172A>G