ClinGen Allele Registry
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Canonical Allele Identifier:
PA2579758040
Gene: BRCA1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.1042682679
Score
0.2212148036
Score
0.066689391
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001076894
ClinVar Variation:
868074
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Gly1803Arg
CA10590657
NM_007294.4:c.5407G>C