Allele Registry

Canonical Allele Identifier: PA2829417599

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000189476

RCV000686393

RCV001721226

RCV001808499

RCV002517901

ClinVar Variation:

207303

HGVS (amino-acid)	Matching Registered Transcripts
NP_003118.2:p.Ala2074Thr	CA318641 NM_003127.4:c.6220G>A