Allele Registry

Canonical Allele Identifier: PA916044222

Gene: SPTAN1 HGNC NCBI

ClinVar Allele:

202456

ClinVar RCV:

RCV000189539

RCV000636383

RCV001808525

RCV002317652

RCV003488443

ClinVar Variation:

207365

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350688.1:p.Asp2487Asn	CA318759 NM_001363759.2:c.7459G>A