This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: SHANK3 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000499475.1:p.His750Gln
CA515263979
ENST00000664402.2:c.2250C>A
CA515263980
ENST00000664402.2:c.2250C>G