ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830124444
Gene: SHANK3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_277052.1:p.Arg357_Ile434del
CA515252231
NM_033517.1:c.1069C>T