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: SHANK2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000394536.2:p.Val1332Leu
CA381676327
ENST00000423696.6:c.3994G>T
CA381676328
ENST00000423696.6:c.3994G>C