Allele Registry

Canonical Allele Identifier: PA2828575127

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV002022932

ClinVar Variation:

1512243

HGVS (amino-acid)	Matching Registered Transcripts
NP_001362241.2:p.Gln2047Lys	CA375086007 NM_001375312.2:c.6139C>A