Allele Registry

Canonical Allele Identifier: PA915984555

Gene: SH3BP2 HGNC NCBI

ClinVar RCV:

RCV000264563

RCV002520237

RCV003480615

ClinVar Variation:

348590

HGVS (amino-acid)	Matching Registered Transcripts
NP_001139328.1:p.Ser513Leu	CA2819496 NM_001145856.2:c.1538C>T