Allele Registry

Canonical Allele Identifier: PA645374409

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000489427

RCV002523419

RCV003335376

RCV003387859

ClinVar Variation:

427111

HGVS (amino-acid)	Matching Registered Transcripts
NP_001123910.1:p.Arg19Trp	CA375049451 NM_001130438.3:c.55C>T