ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA113391
Gene: TARDBP
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-0.1936266374
Linked Data - NCBI & NCI
ClinVar Allele:
34340
ClinVar RCV:
RCV001997114
ClinVar Variation:
1448395
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_031401.1:p.Ser332Asn
CA17876266
NM_007375.4:c.995G>A