ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828415534
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001023747
RCV001061035
RCV001772198
RCV004004640
ClinVar Variation:
825558
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357333.1:p.Trp1696Ser
CA394314459
NM_001370404.1:c.5087G>C