ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA113412
Gene: TARDBP
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
34331
ClinVar RCV:
RCV002648124
ClinVar Variation:
2202700
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_031401.1:p.Ser393Leu
CA586497
NM_007375.4:c.1178C>T