ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828417932
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000444052
RCV000546851
RCV000767144
RCV002411311
ClinVar Variation:
379559
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357334.1:p.Gly630Asp
CA16606929
NM_001370405.1:c.1889G>A