ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827617430
Gene: SETX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
365374
ClinVar RCV Id:
RCV000289058
RCV000346458
RCV001861345
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338457.1:p.Tyr237Cys
CA5297977
NM_001351528.2:c.710A>G