ClinGen Allele Registry
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Canonical Allele Identifier:
PA2579757663
Gene: BRCA1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-1.4642643228
Score
-1.8515251227
Score
-2.2101615878
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001078044
ClinVar Variation:
869021
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Arg1699Gly
CA10591334
NM_007294.4:c.5095C>G