Allele Registry

Canonical Allele Identifier: PA2828577684

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV002022932

ClinVar Variation:

1512243

HGVS (amino-acid)	Matching Registered Transcripts
NP_001362243.1:p.Gln2015Lys	CA375086007 NM_001375314.2:c.6043C>A