ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828418080
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1425749
ClinVar RCV Id:
RCV001926881
RCV004010909
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357334.1:p.Pro666Ser
CA394274426
NM_001370405.1:c.1996C>T