ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827016901
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000189956
RCV000233520
RCV002321769
RCV003996875
ClinVar Variation:
207698
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Val120Met
CA045030
NM_001318832.2:c.358G>A