ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741935834
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2768905
ClinVar RCV Id:
RCV003529849
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Ile482Val
CA10599153
NM_007300.4:c.1444A>G