Canonical Allele Identifier: PA2827617195
Gene: SETX HGNC NCBI

Linked Data

ClinVar Variation Id: 448347
ClinVar RCV Id: RCV000516539 RCV000531955 RCV001509372 RCV002395238 RCV004541622
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338456.1:p.Ser2497Asn
CA5296378
NM_001351527.2:c.7490G>A