Allele Registry

Canonical Allele Identifier: PA915981819

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV001214342

RCV001705047

RCV001808494

RCV002327020

ClinVar Variation:

207292

HGVS (amino-acid)	Matching Registered Transcripts
NP_003118.2:p.Asp1509Glu	CA318620 NM_003127.4:c.4527C>A CA375068294 NM_003127.4:c.4527C>G