Canonical Allele Identifier: PA2827251290
Gene: SHOC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2191116
ClinVar RCV Id: RCV002628416 RCV003147829 RCV003274284 RCV003404111
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001311266.1:p.Val18Leu
CA378380701
NM_001324337.2:c.52G>C
CA378380710
NM_001324337.2:c.52G>T