Canonical Allele Identifier: PA2827617423
Gene: SETX HGNC NCBI

Linked Data

ClinVar Variation Id: 448341
ClinVar RCV Id: RCV000516905 RCV001166018 RCV001166019 RCV001848903 RCV000535102 RCV001311799 RCV002367720 RCV004541619
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338457.1:p.Lys218Asn
CA5297991
NM_001351528.2:c.654G>C
CA375349464
NM_001351528.2:c.654G>T