ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829721333
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2501191
ClinVar RCV Id:
RCV003226788
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Glu1107Lys
CA10595348
NM_007300.4:c.3319G>A