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
ENSP00000489147.2:p.Ser350Arg
CA515255129
ENST00000262795.7:c.1048A>C
CA515255134
ENST00000262795.7:c.1050C>A
CA515255136
ENST00000262795.7:c.1050C>G