ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827617502
Gene: SETX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1299688
ClinVar RCV Id:
RCV002221638
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338457.1:p.Met386Val
CA375345384
NM_001351528.2:c.1156A>G