Allele Registry

Canonical Allele Identifier: PA2825579466

Gene: SH2D1A HGNC NCBI

ClinVar Allele:

25942

538286

ClinVar RCV:

RCV000011650

RCV000660266

ClinVar Variation:

10903

547773

HGVS (amino-acid)	Matching Registered Transcripts
NP_001108409.1:p.Pro125_Ter126insArgArgLysIleLysHisLeuValLeuTyrPheLeu	CA255597 NM_001114937.3:c.376T>A CA414125202 NM_001114937.3:c.376T>C