Allele Registry

Canonical Allele Identifier: PA645422864

Gene: SIM1 HGNC NCBI

ClinVar RCV:

RCV000240299

RCV000482527

RCV001158265

RCV001174498

RCV001820794

RCV002518552

RCV004547625

ClinVar Variation:

254101

HGVS (amino-acid)	Matching Registered Transcripts
NP_005059.2:p.Asp707His	CA3936871 NM_005068.3:c.2119G>C