ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827617635
Gene: SETX
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000537094
RCV000992930
RCV002420466
ClinVar Variation:
468490
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338457.1:p.Asn669Tyr
CA5297680
NM_001351528.2:c.2005A>T