ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829679455
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2696704
ClinVar RCV Id:
RCV003530394
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Asn743Asp
CA10597546
NM_007294.4:c.2227A>G