ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573089938
Gene: SHANK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1336482
ClinVar RCV Id:
RCV001817437
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_036441.2:p.Ile1773Val
CA6160718
NM_012309.5:c.5317A>G