ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA263236
Gene: SHANK3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000043655
RCV001804766
ClinVar Variation:
50949
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_277052.1:p.Pro141Ala
CA263235
NM_033517.1:c.421C>G