ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA268328
Gene: BRCA1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-1.105971188
Score
-1.5559419121
Score
-1.2305892873
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000112497
RCV001306989
ClinVar Variation:
55398
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Arg1699Leu
CA003237
NM_007294.4:c.5096G>T