Allele Registry

Canonical Allele Identifier: PA2573089259

Gene: SPTBN2 HGNC NCBI

ClinVar RCV:

RCV000658606

RCV001253295

RCV001289186

RCV002531107

ClinVar Variation:

502388

HGVS (amino-acid)	Matching Registered Transcripts
NP_008877.2:p.Ala486Thr	CA6129367 NM_006946.4:c.1456G>A