ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA113198
Gene: TARDBP
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-0.18505137
Linked Data - NCBI & NCI
ClinVar Allele:
20275
ClinVar RCV:
RCV000005547
RCV001384596
RCV004546411
ClinVar Variation:
5236
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_031401.1:p.Ala315Thr
CA340381
NM_007375.4:c.943G>A