Allele Registry

Canonical Allele Identifier: PA318675

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000458086

RCV001721228

RCV001808510

ClinVar Variation:

207321

HGVS (amino-acid)	Matching Registered Transcripts
NP_001123910.1:p.Met541Val	CA318674 NM_001130438.3:c.1621A>G