ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827616702
Gene: SETX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
994755
ClinVar RCV Id:
RCV001288401
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338456.1:p.Pro1418Ala
CA5297233
NM_001351527.2:c.4252C>G