ClinGen Allele Registry
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Canonical Allele Identifier:
PA2579758036
Gene: BRCA1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-0.8206107718
Score
-0.7447472444
Score
-0.5804502345
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001072894
ClinVar Variation:
865468
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Val1804Leu
CA10590646
NM_007294.4:c.5410G>C