Canonical Allele Identifier: PA916060776
Gene: SHANK2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_573573.2:p.Asp873Glu
CA381682341
NM_133266.5:c.2619C>G
CA381682343
NM_133266.5:c.2619C>A