ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829730001
Gene: SHANK2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_036441.2:p.Leu1477Arg
CA381682162
NM_012309.5:c.4430T>G