Allele Registry

Canonical Allele Identifier: PA2828113331

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000443505

RCV001041521

RCV001808815

RCV004022391

ClinVar Variation:

385053

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350694.1:p.Pro1803Leu	CA5265459 NM_001363765.2:c.5408C>T