ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827006332
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000190055
RCV000572337
RCV001084043
RCV003996899
ClinVar Variation:
207771
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Arg212Gln
CA319570
NM_001318829.2:c.635G>A