Allele Registry

Canonical Allele Identifier: PA915981217

Gene: SPTAN1 HGNC NCBI

ClinVar Allele:

415160

ClinVar RCV:

RCV000489427

RCV002523419

RCV003335376

RCV003387859

ClinVar Variation:

427111

HGVS (amino-acid)	Matching Registered Transcripts
NP_003118.2:p.Arg19Trp	CA375049451 NM_003127.4:c.55C>T