ClinGen Allele Registry
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Canonical Allele Identifier:
PA658667904
Gene: BRCA1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.1522065811
Score
-0.3528886234
Score
-0.1140118236
Linked Data - NCBI & NCI
ClinVar Allele:
479256
ClinVar RCV:
RCV000570314
RCV001076224
RCV001372578
ClinVar Variation:
479223
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Asp1739Asn
CA10591111
NM_007294.4:c.5215G>A