ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827011270
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000055561
RCV001053191
ClinVar Variation:
65337
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Leu19Pro
CA022749
NM_001318831.2:c.56T>C