Canonical Allele Identifier: PA645468203
Gene: SHANK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 375622
ClinVar RCV Id: RCV000417108
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_277052.1:p.Val344Leu
CA16044390
NM_033517.1:c.1030G>T
CA515250770
NM_033517.1:c.1030G>C