ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA915973008
Gene: SETX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
810453
ClinVar RCV Id:
RCV000999254
RCV002550734
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055861.3:p.Pro1464Ser
CA5297209
NM_015046.7:c.4390C>T