Allele Registry

Canonical Allele Identifier: PA318719

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV001040415

RCV001705052

RCV001808517

ClinVar Variation:

207344

HGVS (amino-acid)	Matching Registered Transcripts
NP_001123910.1:p.Ala1824Thr	CA318718 NM_001130438.3:c.5470G>A