Canonical Allele Identifier: PA645294300
Gene: SHANK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 305914
ClinVar RCV Id: RCV000328964 RCV003401302
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_036441.2:p.Pro194Leu
CA6162108
NM_012309.5:c.581C>T