Canonical Allele Identifier: PA2830188533
Gene: SHANK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2663437
ClinVar RCV Id: RCV003442625
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_573573.2:p.Gly1162Arg
CA381675957
NM_133266.5:c.3484G>C
CA381675959
NM_133266.5:c.3484G>A