ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827618307
Gene: SETX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2295
ClinVar RCV Id:
RCV000002385
RCV001288413
RCV003764517
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338457.1:p.Leu1977Phe
CA252191
NM_001351528.2:c.5929C>T