Allele Registry

Canonical Allele Identifier: PA2829142295

Gene: SH2B1 HGNC NCBI

ClinVar RCV:

RCV001621215

ClinVar Variation:

1232867

HGVS (amino-acid)	Matching Registered Transcripts
NP_001374333.1:p.Thr484Ala	CA7986210 NM_001387404.1:c.1450A>G