ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829980394
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000471216
RCV000567838
RCV001082119
RCV003479052
ClinVar Variation:
207680
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Ser1322Leu
CA050423
NM_021055.3:c.3965C>T