ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA117348
Gene: TARDBP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
5238
ClinVar RCV Id:
RCV000005549
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_031401.1:p.Lys263Glu
CA117346
NM_007375.4:c.787A>G