Allele Registry

Canonical Allele Identifier: PA2828110580

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000525980

RCV003148779

ClinVar Variation:

461216

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350688.1:p.Glu698Asp	CA375056164 NM_001363759.2:c.2094A>C CA375056166 NM_001363759.2:c.2094A>T