ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827618160
Gene: SETX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
468516
ClinVar RCV Id:
RCV000558440
RCV000859806
RCV001644653
RCV002341378
RCV001848953
RCV004538011
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338457.1:p.Pro1661Arg
CA5297098
NM_001351528.2:c.4982C>G