ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827617253
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_001338456.1:p.Ile2587Val
CA148730
NM_001351527.2:c.7759A>G