ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA233092
Gene: SETX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
155742
ClinVar RCV Id:
RCV000143813
RCV000626102
RCV000790203
RCV000791025
RCV001523409
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055861.3:p.Arg502Trp
CA233090
NM_015046.7:c.1504C>T