ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827616711
Gene: SETX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
805417
ClinVar RCV Id:
RCV000992938
RCV001038162
RCV003233893
RCV003233894
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338456.1:p.Leu1439Ser
CA375326558
NM_001351527.2:c.4316T>C