ClinGen Allele Registry
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Canonical Allele Identifier:
PA113370
Gene: TARDBP
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.1235518194
Linked Data - NCBI & NCI
ClinVar Allele:
20273
ClinVar RCV:
RCV000005545
RCV000516886
RCV001851671
ClinVar Variation:
5234
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_031401.1:p.Gly348Cys
CA340379
NM_007375.4:c.1042G>T