ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645294295
Gene: SHANK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
305923
ClinVar RCV Id:
RCV000336199
RCV002520758
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_036441.2:p.Arg111His
CA6162146
NM_012309.5:c.332G>A