Allele Registry

Canonical Allele Identifier: PA2829417353

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000443505

RCV001041521

RCV001808815

RCV004022391

ClinVar Variation:

385053

HGVS (amino-acid)	Matching Registered Transcripts
NP_003118.2:p.Pro1818Leu	CA5265459 NM_003127.4:c.5453C>T