ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645435676
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
238078
ClinVar RCV Id:
RCV000226974
RCV000564490
RCV001675679
RCV003998837
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Pro1737Ser
CA054437
NM_000548.5:c.5209C>T