Allele Registry

Canonical Allele Identifier: PA2828110836

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV001721229

RCV001852510

ClinVar Variation:

207329

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350688.1:p.Ala1027Thr	CA318690 NM_001363759.2:c.3079G>A