ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645432512
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406060
ClinVar RCV Id:
RCV000458103
RCV001015427
RCV001119144
RCV004539938
RCV003477947
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Ser802Gly
CA038952
NM_000548.5:c.2404A>G