Allele Registry

Canonical Allele Identifier: PA2573089275

Gene: SPTBN2 HGNC NCBI

ClinVar RCV:

RCV000593657

RCV000765002

ClinVar Variation:

502387

HGVS (amino-acid)	Matching Registered Transcripts
NP_008877.2:p.Ala1267Val	CA6128755 NM_006946.4:c.3800C>T