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
ENSP00000489407.2:p.Met793Ile
CA515262853
ENST00000445220.7:c.2379G>A
CA515262855
ENST00000445220.7:c.2379G>C
CA515262856
ENST00000445220.7:c.2379G>T