ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658662150
Gene: SETX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
448309
ClinVar RCV Id:
RCV000516965
RCV001049138
RCV002404330
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055861.3:p.His58Tyr
CA200838114
NM_015046.7:c.172C>T