ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139675566
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
838362
ClinVar RCV Id:
RCV001039897
RCV003393797
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Met1615Arg
CA394308151
NM_000548.5:c.4844T>G