Allele Registry

Canonical Allele Identifier: PA915981356

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000189490

RCV003765205

ClinVar Variation:

207317

HGVS (amino-acid)	Matching Registered Transcripts
NP_003118.2:p.Ser416Asn	CA318666 NM_003127.4:c.1247G>A