Allele Registry

Canonical Allele Identifier: PA2828113525

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000189476

RCV000686393

RCV001721226

RCV001808499

RCV002517901

ClinVar Variation:

207303

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350694.1:p.Ala2059Thr	CA318641 NM_001363765.2:c.6175G>A