Allele Registry

Canonical Allele Identifier: PA916044127

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV001346568

RCV001697975

RCV001809699

RCV004024947

ClinVar Variation:

511730

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350688.1:p.Lys1664Arg	CA5265353 NM_001363759.2:c.4991A>G