Allele Registry

Canonical Allele Identifier: PA915981233

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000529844

RCV001591214

RCV001809477

ClinVar Variation:

461222

HGVS (amino-acid)	Matching Registered Transcripts
NP_003118.2:p.Arg121Leu	CA200426935 NM_003127.4:c.362G>T