ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825573943
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000122210
RCV000807299
RCV001013672
RCV003997362
RCV004542921
ClinVar Variation:
135373
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Val638Met
CA016199
NM_001114382.3:c.1912G>A