Allele Registry

Canonical Allele Identifier: PA2573089302

Gene: SPTBN2 HGNC NCBI

ClinVar RCV:

RCV000192407

RCV000494630

ClinVar Variation:

212300

HGVS (amino-acid)	Matching Registered Transcripts
NP_008877.2:p.Lys61Glu	CA205211 NM_006946.4:c.181A>G