Allele Registry

Canonical Allele Identifier: PA2828113426

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000539013

ClinVar Variation:

461231

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350694.1:p.Lys1948Asn	CA5265591 NM_001363765.2:c.5844A>T CA375082360 NM_001363765.2:c.5844A>C