Allele Registry

Canonical Allele Identifier: PA915981427

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000423266

RCV001861606

ClinVar Variation:

388456

HGVS (amino-acid)	Matching Registered Transcripts
NP_003118.2:p.Ser517Thr	CA5264428 NM_003127.4:c.1550G>C