ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499296395
Gene: SHANK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1299858
ClinVar RCV Id:
RCV001730286
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_573573.2:p.Arg839Gln
CA6160947
NM_133266.5:c.2516G>A