ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827616342
Gene: SETX
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000644812
RCV002473087
RCV003233769
RCV003233770
ClinVar Variation:
536375
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338456.1:p.Thr752Ala
CA5297637
NM_001351527.2:c.2254A>G