Canonical Allele Identifier: PA2828815977
Gene: SHANK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2642071
ClinVar RCV Id: RCV003398074

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001366155.1:p.Arg1293Gly
CA6160788
NM_001379226.1:c.3877C>G