ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA148732
Gene: SETX
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000081702
RCV000294610
RCV000388921
RCV000713232
RCV001522459
ClinVar Variation:
95669
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055861.3:p.Ile2587Val
CA148730
NM_015046.7:c.7759A>G