ClinGen Allele Registry
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Canonical Allele Identifier:
PA2579758033
Gene: BRCA1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-0.8233399319
Score
-1.0422885892
Score
-0.6972721709
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001072897
ClinVar Variation:
865471
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Val1804Gly
CA10590641
NM_007294.4:c.5411T>G