ClinGen Allele Registry
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Canonical Allele Identifier:
PA2579757973
Gene: BRCA1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.4604498417
Score
-0.0190748803
Score
0.1555529187
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001077419
ClinVar Variation:
868506
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Asp1818Val
CA10590481
NM_007294.4:c.5453A>T