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
ENSP00000386491.1:p.Pro1148Leu
CA381676037
ENST00000409161.5:c.3443C>T
CA645583696
ENST00000409161.5:c.3443_3444delinsTT