ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828413821
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1734981
ClinVar RCV Id:
RCV002353100
RCV003626714
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357333.1:p.Leu1222Val
CA394293547
NM_001370404.1:c.3664C>G