Canonical Allele Identifier: PA214633
Gene: SHANK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 212164
ClinVar RCV Id: RCV000193454
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_573573.2:p.Ala789Val
CA214631
NM_133266.5:c.2366C>T