Allele Registry

Canonical Allele Identifier: PA1139741953

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000189545

RCV000416988

RCV001195886

ClinVar Variation:

207370

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350688.1:p.Arg2329_Met2330dup	CA318769 NM_001363759.2:c.6986_6991dup