Allele Registry

Canonical Allele Identifier: PA2828113694

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000189533

RCV001542587

ClinVar Variation:

207359

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350694.1:p.Asp2280Val	CA318747 NM_001363765.2:c.6839A>T