Allele Registry

Canonical Allele Identifier: PA2828576900

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV001960246

ClinVar Variation:

1442358

HGVS (amino-acid)	Matching Registered Transcripts
NP_001362243.1:p.Val444Leu	CA375053186 NM_001375314.2:c.1330G>C