Allele Registry

Canonical Allele Identifier: PA2828575128

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV003753591

ClinVar Variation:

2901012

HGVS (amino-acid)	Matching Registered Transcripts
NP_001362241.2:p.Gln2047Glu	CA5265645 NM_001375312.2:c.6139C>G