ClinGen Allele Registry
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Canonical Allele Identifier:
PA2579758031
Gene: BRCA1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.1408891963
Score
-0.192600236
Score
0.6099112116
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001076051
ClinVar Variation:
867376
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.His1805Asn
CA10590637
NM_007294.4:c.5413C>A