Allele Registry

Canonical Allele Identifier: PA2573211333

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV002022932

ClinVar Variation:

1512243

HGVS (amino-acid)	Matching Registered Transcripts
NP_001362247.1:p.Gln2047Lys	CA375086007 NM_001375318.1:c.6139C>A