ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645294291
Gene: SHANK2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000271211
RCV002520760
ClinVar Variation:
305930
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_036441.2:p.Arg3Cys
CA6162193
NM_012309.5:c.7C>T