ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825435116
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000042395
RCV000413741
RCV001065226
ClinVar Variation:
49140
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Leu362Pro
CA013704
NM_001077183.3:c.1085T>C