Allele Registry

Canonical Allele Identifier: PA2829417823

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000189545

RCV000416988

RCV001195886

ClinVar Variation:

207370

HGVS (amino-acid)	Matching Registered Transcripts
NP_003118.2:p.Arg2303_Met2304dup	CA318769 NM_003127.4:c.6908_6913dup