Allele Registry

Canonical Allele Identifier: PA2829417214

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV001346568

RCV001697975

RCV001809699

RCV004024947

ClinVar Variation:

511730

HGVS (amino-acid)	Matching Registered Transcripts
NP_003118.2:p.Lys1659Arg	CA5265353 NM_003127.4:c.4976A>G