ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827008229
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000190007
RCV001016513
RCV001086210
RCV003996889
ClinVar Variation:
207735
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Asn870Ser
CA041783
NM_001318829.2:c.2609A>G