Canonical Allele Identifier: PA2827617994
Gene: SETX HGNC NCBI

Linked Data

ClinVar Variation Id: 448326
ClinVar RCV Id: RCV000518088 RCV000644816 RCV003233683 RCV003233684
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338457.1:p.Gln1349Glu
CA200807527
NM_001351528.2:c.4045C>G