ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916031113
Gene: SETX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
448347
ClinVar RCV Id:
RCV000516539
RCV000531955
RCV001509372
RCV002395238
RCV004541622
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338457.1:p.Ser2526Asn
CA5296378
NM_001351528.2:c.7577G>A