ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645448959
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
229793
ClinVar RCV Id:
RCV000216442
RCV001237190
RCV003153496
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Lys711Glu
CA058796
NM_007294.4:c.2131A>G