ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA264421
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
64921
ClinVar RCV Id:
RCV000055123
RCV001253278
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Leu844Pro
CA017563
NM_000548.5:c.2531T>C