ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA108032
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49929
ClinVar RCV Id:
RCV000043196
RCV000693889
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Pro1709Leu
CA021795
NM_000548.5:c.5126C>T