ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA094724
Gene: SNCA
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.071947799
Score
1.008460723
Score
0.080319604
Score
0.008556025
Score
-0.002476303
Score
-0.025677476
Score
-0.0007627
Score
-0.014087766
Score
0.044619515
Score
-0.007851186
Score
0.031683109
Score
0.130551578
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000015047
RCV002514100
ClinVar Variation:
14010
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000336.1:p.Glu46Lys
CA123701
NM_000345.4:c.136G>A