ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829972643
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000457917
RCV001017372
RCV002244933
RCV003463864
ClinVar Variation:
405972
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Leu372Pro
CA16614653
NM_021055.3:c.1115T>C