ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580390540
Gene: SETX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1736056
ClinVar RCV Id:
RCV002357482
RCV003883808
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055861.3:p.Arg1302Leu
CA375328048
NM_015046.7:c.3905G>T