ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645453050
Gene: BRCA1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-2.3417321032
Score
-2.26596825
Score
-1.9799153177
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000241502
ClinVar Variation:
254643
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Val1838Gly
CA10586676
NM_007294.4:c.5513T>G