Allele Registry

Canonical Allele Identifier: PA916044166

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000440673

RCV000473411

RCV001808817

ClinVar Variation:

385631

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350688.1:p.Ser2071Arg	CA5265661 NM_001363759.2:c.6211A>C CA5265662 NM_001363759.2:c.6213C>G CA375087086 NM_001363759.2:c.6213C>A