ClinGen Allele Registry
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Canonical Allele Identifier:
PA215811
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
50179
ClinVar RCV:
RCV000034657
RCV000054871
RCV000566784
RCV000606975
RCV000768352
RCV001082570
RCV004534723
ClinVar Variation:
41740
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Arg1409Trp
CA020096
NM_000548.5:c.4225C>T