Allele Registry

Canonical Allele Identifier: PA913197588

Gene: SH2B3 HGNC NCBI

ClinVar Allele:

611368

ClinVar RCV:

RCV000760171

RCV000760174

ClinVar Variation:

619973

HGVS (amino-acid)	Matching Registered Transcripts
NP_005466.1:p.Glu395Lys	CA6789874 NM_005475.3:c.1183G>A