ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645449989
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
232179
ClinVar RCV Id:
RCV000220872
RCV000483943
RCV001853582
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Ser1056Pro
CA10580579
NM_007294.4:c.3166T>C