ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916024005
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207735
ClinVar RCV Id:
RCV000190007
RCV001016513
RCV001086210
RCV003996889
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Asn930Ser
CA041783
NM_001318832.2:c.2789A>G