ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645452122
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000463327
RCV001078104
RCV002348316
ClinVar Variation:
409313
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Lys1711Gln
CA10591282
NM_007294.4:c.5131A>C