ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA263117
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
50077
ClinVar RCV Id:
RCV000043343
RCV000491444
RCV001852902
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Leu850Pro
CA017661
NM_000548.5:c.2549T>C