ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645448550
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
419772
ClinVar RCV Id:
RCV000481813
RCV000690913
RCV002383919
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Ala439Ser
CA10599420
NM_007294.4:c.1315G>T