ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916000453
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55060
ClinVar RCV Id:
RCV000112219
RCV000563671
RCV000758819
RCV001321831
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Lys1322Ile
CA002540
NM_007300.4:c.3965A>T