ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499254773
Gene: SHANK3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358973.1:p.Lys192_Ile509del
CA515252475
NM_001372044.2:c.574A>T