Allele Registry

Canonical Allele Identifier: PA2829417640

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000636277

ClinVar Variation:

530418

HGVS (amino-acid)	Matching Registered Transcripts
NP_003118.2:p.Arg2119Cys	CA375088545 NM_003127.4:c.6355C>T