ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA260730
Gene: BRCA1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.3649906169
Score
0.0151078043
Score
-0.3588309561
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000031249
RCV000985440
RCV001024053
RCV001326886
ClinVar Variation:
37668
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Gly1803Ala
CA003574
NM_007294.4:c.5408G>C