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_011543157.1:p.Gly1747Arg
CA381675957
XM_011544855.1:c.5239G>C
CA381675959
XM_011544855.1:c.5239G>A