ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827617312
Gene: SETX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
493501
ClinVar RCV Id:
RCV000585415
RCV001860113
RCV002341496
RCV004530634
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338457.1:p.Ser2Gly
CA5298157
NM_001351528.2:c.4A>G