ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827618043
Gene: SETX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2940290
ClinVar RCV Id:
RCV003797648
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338457.1:p.Asp1443Asn
CA200807109
NM_001351528.2:c.4327G>A