ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827618090
Gene: SETX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
365353
ClinVar RCV Id:
RCV000348389
RCV000400900
RCV000644810
RCV002338959
RCV003482252
RCV004544710
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338457.1:p.Arg1538Trp
CA5297167
NM_001351528.2:c.4612C>T