Allele Registry

Canonical Allele Identifier: PA2826203383

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000443754

RCV002521654

ClinVar Variation:

383875

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182461.1:p.Ala429Val	CA5264352 NM_001195532.2:c.1286C>T