ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827617033
Gene: SETX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
365349
ClinVar RCV Id:
RCV000342521
RCV000407208
RCV001358835
RCV001662351
RCV002365439
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338456.1:p.Arg2105Trp
CA5296776
NM_001351527.2:c.6313C>T