ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741869974
Gene: SHANK3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
50949
ClinVar RCV Id:
RCV000043655
RCV001804766
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358973.1:p.Pro216Ala
CA263235
NM_001372044.2:c.646C>G