Allele Registry

Canonical Allele Identifier: PA2829417553

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000189472

RCV001852508

ClinVar Variation:

207299

HGVS (amino-acid)	Matching Registered Transcripts
NP_003118.2:p.Ala2045Thr	CA318633 NM_003127.4:c.6133G>A