ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA262895
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49751
ClinVar RCV Id:
RCV000043016
RCV000473440
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Leu826Pro
CA017496
NM_000548.5:c.2477T>C