Allele Registry

Canonical Allele Identifier: PA2828111478

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV003753591

ClinVar Variation:

2901012

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350688.1:p.Gln2035Glu	CA5265645 NM_001363759.2:c.6103C>G