Allele Registry

Canonical Allele Identifier: PA2828112809

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV001721229

RCV001852510

ClinVar Variation:

207329

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350694.1:p.Ala1027Thr	CA318690 NM_001363765.2:c.3079G>A