Canonical Allele Identifier: PA2828815989
Gene: SHANK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1336482
ClinVar RCV Id: RCV001817437
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001366155.1:p.Ile1394Val
CA6160718
NM_001379226.1:c.4180A>G