ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828416025
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000055320
RCV000644085
RCV001118864
RCV002408557
RCV003466927
ClinVar Variation:
65108
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357334.1:p.Ile64Val
CA016191
NM_001370405.1:c.190A>G