ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA096829
Gene: SETX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2292
ClinVar RCV Id:
RCV000002382
RCV001781169
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055861.3:p.Leu1976Arg
CA252189
NM_015046.7:c.5927T>G