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.Phe694Leu
CA515263438
ENST00000664402.2:c.2080T>C
CA515263443
ENST00000664402.2:c.2082T>A
CA515263444
ENST00000664402.2:c.2082T>G