ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828092353
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
467942
ClinVar RCV Id:
RCV000535705
RCV001015534
RCV003153712
RCV003999270
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350457.1:p.Val813Met
CA039041
NM_001363528.2:c.2437G>A