Allele Registry

Canonical Allele Identifier: PA2829417537

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV002022932

ClinVar Variation:

1512243

HGVS (amino-acid)	Matching Registered Transcripts
NP_003118.2:p.Gln2030Lys	CA375086007 NM_003127.4:c.6088C>A