ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580390550
Gene: SETX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1896044
ClinVar RCV Id:
RCV002571845
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055861.3:p.Pro1331del
CA5297289
NM_015046.7:c.3992_3994del