Allele Registry

Canonical Allele Identifier: PA214638

Gene: SHANK2 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_573573.2:p.Met1129Ile	CA214637 NM_133266.5:c.3387G>A CA6160760 NM_133266.5:c.3387G>C CA381676287 NM_133266.5:c.3387G>T