ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579758035
Gene: BRCA1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.9377782789
Score
0.5773958568
Score
0.5567598216
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001072895
ClinVar Variation:
865469
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Val1804Phe
CA10590644
NM_007294.4:c.5410G>T