ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825437382
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000189915
RCV000490959
RCV000546326
ClinVar Variation:
207676
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Pro1065Leu
CA319368
NM_001077183.3:c.3194C>T