ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA113273
Gene: TARDBP
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-0.8282539351
Linked Data - NCBI & NCI
ClinVar Allele:
20268
ClinVar RCV:
RCV000005540
ClinVar Variation:
5229
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_031401.1:p.Gln331Lys
CA253443
NM_007375.4:c.991C>A