ClinGen Allele Registry
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Canonical Allele Identifier:
PA2579757659
Gene: BRCA1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-1.8747723799
Score
-1.4810920916
Score
-2.2288835325
Linked Data - NCBI & NCI
ClinVar Allele:
853940
ClinVar RCV:
RCV001076417
RCV001862642
ClinVar Variation:
867673
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Ala1708Gly
CA10591290
NM_007294.4:c.5123C>G