Allele Registry

Canonical Allele Identifier: PA2828110593

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000616126

RCV001868076

ClinVar Variation:

515999

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350688.1:p.His720Arg	CA375056517 NM_001363759.2:c.2159A>G