Allele Registry

Canonical Allele Identifier: PA915981774

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000636432

RCV000839031

RCV001809709

ClinVar Variation:

530530

HGVS (amino-acid)	Matching Registered Transcripts
NP_003118.2:p.Arg1385Trp	CA5265135 NM_003127.4:c.4153C>T