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