Canonical Allele Identifier: PA2827251036
Gene: SHOC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 181528
ClinVar Variation Id: 546129
ClinVar RCV Id: RCV000657957
ClinVar Variation Id: 2850800
ClinVar RCV Id: RCV003655985

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001311265.1:p.Met173Ile
CA199174
NM_001324336.2:c.519G>A
CA378385803
NM_001324336.2:c.519G>T
CA378385809
NM_001324336.2:c.519G>C