Canonical Allele Identifier: PA2573211413
Gene: SPTAN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1396033
ClinVar RCV Id: RCV001891535 RCV002236185
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001362247.1:p.Leu2314Ile
CA375097843
NM_001375318.1:c.6940C>A