Canonical Allele Identifier: PA2573076064
Gene: SHANK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 212164
ClinVar RCV Id: RCV000193454
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001366155.1:p.Ala998Val
CA214631
NM_001379226.1:c.2993C>T