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
XP_011543156.1:p.Pro1748Leu
CA381676037
XM_011544854.1:c.5243C>T
CA645583696
XM_011544854.1:c.5243_5244delinsTT