Allele Registry

Canonical Allele Identifier: PA2829417820

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000189544

ClinVar Variation:

207369

HGVS (amino-acid)	Matching Registered Transcripts
NP_003118.2:p.Gln2299_Gly2301dup	CA318767 NM_003127.4:c.6895_6903dup