ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA210055
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49241
ClinVar RCV Id:
RCV000042500
RCV000201071
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Arg1032Pro
CA018497
NM_000548.5:c.3095G>C