Allele Registry

Canonical Allele Identifier: PA318748

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000189533

RCV001542587

ClinVar Variation:

207359

HGVS (amino-acid)	Matching Registered Transcripts
NP_001123910.1:p.Asp2300Val	CA318747 NM_001130438.3:c.6899A>T