Canonical Allele Identifier: PA2828815988
Gene: SHANK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2642069
ClinVar RCV Id: RCV003409331
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001366155.1:p.Ala1379Val
CA6160731
NM_001379226.1:c.4136C>T