ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829975365
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207725
ClinVar RCV Id:
RCV000189994
RCV001014296
RCV001083287
RCV003996887
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Arg691Leu
CA036218
NM_021055.3:c.2072G>T