ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828415150
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
318335
ClinVar RCV Id:
RCV000340816
RCV000475549
RCV002338902
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357333.1:p.Asp1600Asn
CA053097
NM_001370404.1:c.4798G>A