Allele Registry

Canonical Allele Identifier: PA318630

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000189470

RCV001321393

RCV001808496

ClinVar Variation:

207297

HGVS (amino-acid)	Matching Registered Transcripts
NP_001123910.1:p.Lys1974Asn	CA318629 NM_001130438.3:c.5922G>C CA375082509 NM_001130438.3:c.5922G>T