ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827005868
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000367424
RCV000470663
RCV000565361
RCV001721240
ClinVar Variation:
207787
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.His27Tyr
CA038111
NM_001318829.2:c.79C>T