ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829972558
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49140
ClinVar RCV Id:
RCV000042395
RCV000413741
RCV001065226
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Leu362Pro
CA013704
NM_021055.3:c.1085T>C