ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA166369
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54541
ClinVar RCV Id:
RCV000083181
RCV000130405
RCV000590349
RCV001353824
RCV001417426
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Ile783Val
CA001565
NM_007294.4:c.2347A>G