ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827615984
Gene: SETX
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000002380
RCV000414273
RCV000789614
ClinVar Variation:
2290
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338456.1:p.Thr3Ile
CA252185
NM_001351527.2:c.8C>T