Canonical Allele Identifier: PA2826204303
Gene: SPTAN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 450963
ClinVar RCV Id: RCV000521461

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182461.1:p.Asp1775Glu
CA375075985
NM_001195532.2:c.5325C>A
CA375075992
NM_001195532.2:c.5325C>G