ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825440479
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000189907
RCV000525436
RCV001015274
RCV003462291
RCV003996866
ClinVar Variation:
207671
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Val806Met
CA319361
NM_001077183.3:c.2416G>A