ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827617248
Gene: SETX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
448349
ClinVar RCV Id:
RCV000518348
RCV003233696
RCV002404331
RCV003233697
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338456.1:p.Val2580Ile
CA5296340
NM_001351527.2:c.7738G>A