ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827615984
Gene: SETX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2290
ClinVar RCV Id:
RCV000002380
RCV000414273
RCV000789614
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338456.1:p.Thr3Ile
CA252185
NM_001351527.2:c.8C>T