ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829709974
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55522
ClinVar RCV Id:
RCV000048926
RCV000077614
RCV000496809
RCV000509679
RCV001770069
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Thr1794Ile
CA003471
NM_007300.4:c.5381C>T