ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA262810
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49629
ClinVar RCV Id:
RCV000042891
RCV002513625
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.His597Arg
CA015754
NM_000548.5:c.1790A>G