ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913197921
Gene: BRCA1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-0.1212149158
Score
-0.787419476
Score
-0.3495085633
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000772536
RCV001045593
RCV001077368
ClinVar Variation:
628196
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Gly1803Val
CA10590653
NM_007294.4:c.5408G>T