ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828415098
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000371761
RCV000839227
RCV001023201
RCV001079540
RCV004537797
ClinVar Variation:
318334
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357333.1:p.Val1586Met
CA10648023
NM_001370404.1:c.4756G>A