ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827617283
Gene: SETX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
468527
ClinVar RCV Id:
RCV000537182
RCV001662568
RCV002413562
RCV004538014
RCV002461309
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338456.1:p.Asp2624Tyr
CA5296301
NM_001351527.2:c.7870G>T