Canonical Allele Identifier: PA2828573731
Gene: SPTAN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2436396
ClinVar RCV Id: RCV003487303
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001362240.1:p.Ala1820Val
CA375076527
NM_001375311.2:c.5459C>T