ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645426295
Gene: SETX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
260502
ClinVar RCV Id:
RCV000250229
RCV000387370
RCV000541126
RCV001168778
RCV001391479
RCV001706351
RCV001848031
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055861.3:p.Lys992Arg
CA5297507
NM_015046.7:c.2975A>G