ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827005798
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
237966
ClinVar RCV Id:
RCV000243799
RCV000726243
RCV001011846
RCV001086583
RCV003998803
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Met1Val