ClinGen Allele Registry
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Canonical Allele Identifier:
PA2579757635
Gene: BRCA1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-0.3144594522
Score
-0.5430380279
Score
-0.4988676219
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001076082
ClinVar Variation:
867403
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Ser1715Thr
CA10591257
NM_007294.4:c.5144G>C