ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658810504
Gene: SETX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
536380
ClinVar RCV Id:
RCV000644819
RCV002458083
RCV003480733
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055861.3:p.Leu804Ser
CA5297599
NM_015046.7:c.2411T>C