Allele Registry

Canonical Allele Identifier: PA2829417536

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV003753591

ClinVar Variation:

2901012

HGVS (amino-acid)	Matching Registered Transcripts
NP_003118.2:p.Gln2030Glu	CA5265645 NM_003127.4:c.6088C>G