ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827617573
Gene: SETX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
448307
ClinVar RCV Id:
RCV000518116
RCV002413399
RCV000695046
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338457.1:p.Leu564Val
CA5297732
NM_001351528.2:c.1690T>G