ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579758006
Gene: BRCA1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-0.3264629411
Score
-0.6913112905
Score
-0.2099947929
Linked Data - NCBI & NCI
ClinVar Allele:
853348
ClinVar RCV:
RCV001072932
ClinVar Variation:
865501
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Pro1812Ser
CA10590560
NM_007294.4:c.5434C>T