Allele Registry

Canonical Allele Identifier: PA122744

Gene: SPTB HGNC NCBI

ClinVar RCV:

RCV000013691

RCV001004904

RCV003129752

ClinVar Variation:

12839

HGVS (amino-acid)	Matching Registered Transcripts
NP_001020029.1:p.Leu2025Arg	CA122743 NM_001024858.4:c.6074T>G