Allele Registry

Canonical Allele Identifier: PA2828110827

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV001696793

RCV003588635

ClinVar Variation:

392592

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350688.1:p.Pro1017Leu	CA5264810 NM_001363759.2:c.3050C>T