Canonical Allele Identifier: PA2828548373
Gene: SIM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 254101
ClinVar RCV Id: RCV000240299 RCV000482527 RCV001174498 RCV001158265 RCV001820794 RCV002518552 RCV004547625
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361698.1:p.Asp707His
CA3936871
NM_001374769.1:c.2119G>C