Allele Registry

Canonical Allele Identifier: PA2828112503

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000699799

RCV000713504

RCV001808480

RCV002408850

ClinVar Variation:

207264

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350694.1:p.Met563Ile	CA318570 NM_001363765.2:c.1689G>T CA375054971 NM_001363765.2:c.1689G>A CA375054972 NM_001363765.2:c.1689G>C