ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645294293
Gene: SHANK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
305928
ClinVar RCV Id:
RCV000311122
RCV002520759
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_036441.2:p.Gly46Ser
CA6162175
NM_012309.5:c.136G>A