Canonical Allele Identifier: PA2828576314
Gene: SPTAN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2537853
ClinVar RCV Id: RCV003256290

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001362242.1:p.Asp1838Glu
CA375076948
NM_001375313.1:c.5514C>A
CA375076951
NM_001375313.1:c.5514C>G