ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA268170
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000112219
RCV000563671
RCV000758819
RCV001321831
ClinVar Variation:
55060
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Lys1322Ile
CA002540
NM_007294.4:c.3965A>T