ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA214632
Gene: SHANK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
212164
ClinVar RCV Id:
RCV000193454
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_036441.2:p.Ala1377Val
CA214631
NM_012309.5:c.4130C>T