Allele Registry

Canonical Allele Identifier: PA645374850

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000440777

RCV002522382

ClinVar Variation:

387660

HGVS (amino-acid)	Matching Registered Transcripts
NP_001123910.1:p.Arg2160Cys	CA5265709 NM_001130438.3:c.6478C>T