Allele Registry

Canonical Allele Identifier: PA2829417588

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000440673

RCV000473411

RCV001808817

ClinVar Variation:

385631

HGVS (amino-acid)	Matching Registered Transcripts
NP_003118.2:p.Ser2066Arg	CA5265661 NM_003127.4:c.6196A>C CA5265662 NM_003127.4:c.6198C>G CA375087086 NM_003127.4:c.6198C>A