ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827617694
Gene: SETX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
448313
ClinVar RCV Id:
RCV000517993
RCV000551603
RCV002448560
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338457.1:p.His799Tyr
CA5297604
NM_001351528.2:c.2395C>T