ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA264649
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000055442
RCV002051805
ClinVar Variation:
65222
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Leu733Val
CA016903
NM_000548.5:c.2197C>G