ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827005384
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49484
ClinVar RCV Id:
RCV000042744
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Ala1613Pro
CA021872
NM_001318827.2:c.4837G>C