ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916031117
Gene: SETX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
155748
ClinVar RCV Id:
RCV000143819
RCV000302102
RCV000393538
RCV000251546
RCV001080640
RCV001260210
RCV001847770
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338457.1:p.Ile2576Thr
CA233108
NM_001351528.2:c.7727T>C