Allele Registry

Canonical Allele Identifier: PA318610

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000449497

RCV000474048

RCV001705046

RCV001808489

ClinVar Variation:

207286

HGVS (amino-acid)	Matching Registered Transcripts
NP_001123910.1:p.Asp1347Asn	CA318609 NM_001130438.3:c.4039G>A