Allele Registry

Canonical Allele Identifier: PA645374589

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000552921

RCV001703658

RCV001808809

ClinVar Variation:

381379

HGVS (amino-acid)	Matching Registered Transcripts
NP_001123910.1:p.Glu1033Asp	CA5264824 NM_001130438.3:c.3099G>T CA375060429 NM_001130438.3:c.3099G>C