Allele Registry

Canonical Allele Identifier: PA2499246393

Gene: SH2B3 HGNC NCBI

ClinVar RCV:

RCV001667974

RCV002488461

ClinVar Variation:

1265448

HGVS (amino-acid)	Matching Registered Transcripts
NP_001278353.1:p.Trp60Arg	CA6789733 NM_001291424.1:c.178T>C CA386710508 NM_001291424.1:c.178T>A