ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828414449
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000533905
RCV001022339
RCV003999315
ClinVar Variation:
468085
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357333.1:p.Arg1407Gly
CA050943
NM_001370404.1:c.4219C>G