ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830188521
Gene: SHANK2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_573573.2:p.Pro1054Leu
CA381679470
NM_133266.5:c.3161C>T