ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA113327
Gene: TARDBP
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-0.0463921993
Linked Data - NCBI & NCI
ClinVar Allele:
34338
ClinVar RCV:
RCV002474373
RCV002569399
ClinVar Variation:
1806944
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_031401.1:p.Gly295Arg
CA17876173
NM_007375.4:c.883G>C