ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658662304
Gene: SETX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
448347
ClinVar RCV Id:
RCV000516539
RCV000531955
RCV001509372
RCV002395238
RCV004541622
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055861.3:p.Ser2497Asn
CA5296378
NM_015046.7:c.7490G>A