ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829682364
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1735756
ClinVar RCV Id:
RCV002355652
RCV003126241
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Ala1293Phe
CA2580094264
NM_007294.4:c.3877_3878delinsTT