Canonical Allele Identifier: PA2827616380
Gene: SETX HGNC NCBI

Linked Data

ClinVar Variation Id: 365365
ClinVar RCV Id: RCV000337733 RCV000375508 RCV001662354 RCV001509826
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338456.1:p.Phe823Leu
CA5297588
NM_001351527.2:c.2469C>G
CA375335815
NM_001351527.2:c.2469C>A
CA375335822
NM_001351527.2:c.2467T>C