ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA197904
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54551
ClinVar RCV Id:
RCV000047818
RCV000111839
RCV000167276
RCV000240714
RCV000588791
RCV001778691
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Thr796Ile
CA001583
NM_007294.4:c.2387C>T