ClinGen Allele Registry
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Canonical Allele Identifier:
PA915992549
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
182171
ClinVar RCV Id:
RCV000160012
RCV000218401
RCV000467034
RCV001078008
RCV001582636
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009229.2:p.Thr730Ile
CA003671
NM_007298.3:c.2189C>T