Allele Registry

Canonical Allele Identifier: PA2829346369

Gene: SH2D1A HGNC NCBI

ClinVar RCV:

RCV000011650

RCV000660266

ClinVar Variation:

10903

547773

HGVS (amino-acid)	Matching Registered Transcripts
NP_002342.1:p.Pro128_Ter129insArgArgLysIleLysHisLeuValLeuTyrPheLeu	CA255597 NM_002351.5:c.385T>A CA414125202 NM_002351.5:c.385T>C