Allele Registry

Canonical Allele Identifier: PA2829417817

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000189533

RCV001542587

ClinVar Variation:

207359

HGVS (amino-acid)	Matching Registered Transcripts
NP_003118.2:p.Asp2295Val	CA318747 NM_003127.4:c.6884A>T