Canonical Allele Identifier: PA2828815950
Gene: SHANK2 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001366155.1:p.Asp1082Glu
CA381682341
NM_001379226.1:c.3246C>G
CA381682343
NM_001379226.1:c.3246C>A