Allele Registry

Canonical Allele Identifier: PA2828577836

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV001785332

ClinVar Variation:

1325795

HGVS (amino-acid)	Matching Registered Transcripts
NP_001362243.1:p.Gln2284_Gly2286del	CA913184752 NM_001375314.2:c.6850_6858del