ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829978467
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000190017
RCV001019560
RCV001085830
RCV004537596
ClinVar Variation:
207743
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Gly1048Ser
CA319506
NM_021055.3:c.3142G>A