ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829693676
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_009228.2:p.Ala1246Phe
CA2580094264
NM_007297.4:c.3736_3737delinsTT