Allele Registry

Canonical Allele Identifier: PA2828113120

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV001214342

RCV001705047

RCV001808494

RCV002327020

ClinVar Variation:

207292

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350694.1:p.Asp1489Glu	CA318620 NM_001363765.2:c.4467C>A CA375068294 NM_001363765.2:c.4467C>G