ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827617467
Gene: SETX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
536383
ClinVar RCV Id:
RCV000644822
RCV001644729
RCV002369707
RCV003424222
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338457.1:p.Ser323Asn
CA5297886
NM_001351528.2:c.968G>A