Canonical Allele Identifier: PA2828577585
Gene: SPTAN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2537853
ClinVar RCV Id: RCV003256290

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001362243.1:p.Asp1818Glu
CA375076948
NM_001375314.2:c.5454C>A
CA375076951
NM_001375314.2:c.5454C>G