Allele Registry

Canonical Allele Identifier: PA2828110972

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000189455

RCV001857656

ClinVar Variation:

207284

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350688.1:p.Ala1222Ser	CA318605 NM_001363759.2:c.3664G>T