ClinGen Allele Registry
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Canonical Allele Identifier:
PA916023084
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000520176
RCV001020414
RCV001085805
RCV004003619
ClinVar Variation:
450949
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Pro918Leu
CA047132
NM_001318831.2:c.2753C>T