Allele Registry

Canonical Allele Identifier: PA318731

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000189524

RCV001089073

RCV001808519

ClinVar Variation:

207350

HGVS (amino-acid)	Matching Registered Transcripts
NP_001123910.1:p.Lys2103Arg	CA318730 NM_001130438.3:c.6308A>G