ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA214650
Gene: SHANK2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_573573.2:p.Ile1076Thr
CA214649
NM_133266.5:c.3227T>C