ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827616483
Gene: SETX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
285878
ClinVar RCV Id:
RCV000321789
RCV001222571
RCV002519195
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338456.1:p.Ser1019Tyr
CA5297486
NM_001351527.2:c.3056C>A