ClinGen Allele Registry
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Canonical Allele Identifier:
PA2579758038
Gene: BRCA1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-1.636754841
Score
-1.262493554
Score
-1.0709303678
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001077367
RCV001175023
RCV001873439
RCV004031207
ClinVar Variation:
868461
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Gly1803Asp
CA10590654
NM_007294.4:c.5408G>A