Canonical Allele Identifier: PA2828113356
Gene: SPTAN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 139302
ClinVar RCV Id: RCV000128263 RCV000466233 RCV001808379 RCV002312943 RCV003430701 RCV004551230
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350694.1:p.Ala1831Val
CA173582
NM_001363765.2:c.5492C>T