Allele Registry

Canonical Allele Identifier: PA2573211038

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV001960246

ClinVar Variation:

1442358

HGVS (amino-acid)	Matching Registered Transcripts
NP_001362247.1:p.Val456Leu	CA375053186 NM_001375318.1:c.1366G>C