ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827008148
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000644267
RCV001016255
RCV002264970
RCV004004025
ClinVar Variation:
536006
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.His841Tyr
CA040850
NM_001318829.2:c.2521C>T