ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827618053
Gene: SETX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
810453
ClinVar RCV Id:
RCV000999254
RCV002550734
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338457.1:p.Pro1464Ser
CA5297209
NM_001351528.2:c.4390C>T