ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829699156
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54172
ClinVar RCV Id:
RCV000083167
RCV000775195
RCV001175357
RCV001398773
RCV003476945
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009229.2:p.Ile42Val
CA000820
NM_007298.3:c.124A>G