Allele Registry

Canonical Allele Identifier: PA2828113560

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000636277

ClinVar Variation:

530418

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350694.1:p.Arg2104Cys	CA375088545 NM_001363765.2:c.6310C>T