ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828420578
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
238045
ClinVar RCV Id:
RCV000232439
RCV000562405
RCV000502912
RCV003998827
RCV004532852
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357334.1:p.Ser1406Phe
CA050898
NM_001370405.1:c.4217C>T