ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA266647
Gene: BRCA1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-1.5660187407
Score
-1.7258732384
Score
-2.467148056
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000077628
RCV000480633
RCV001181282
RCV001853026
ClinVar Variation:
55611
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Val1838Glu
CA003690
NM_007294.4:c.5513T>A