ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829691392
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
187166
ClinVar RCV Id:
RCV000166865
RCV001269093
RCV001369638
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Glu799Lys
CA001677
NM_007297.4:c.2395G>A