Allele Registry

Canonical Allele Identifier: PA2826203917

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000189455

RCV001857656

ClinVar Variation:

207284

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182461.1:p.Ala1202Ser	CA318605 NM_001195532.2:c.3604G>T