ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825437444
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000055129
RCV000465863
RCV001020133
RCV001697040
ClinVar Variation:
64927
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Asp1082Val
CA019052
NM_001077183.3:c.3245A>T