ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828815972
Gene: SHANK2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366155.1:p.Pro1263Leu
CA381679470
NM_001379226.1:c.3788C>T