ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828421341
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000469448
RCV001023350
ClinVar Variation:
406065
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357334.1:p.Lys1615Arg
CA16615040
NM_001370405.1:c.4844A>G