ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA197761
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
187484
ClinVar RCV Id:
RCV000167217
RCV000526320
RCV002492675
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Ile1735Ser
CA022137
NM_000548.5:c.5204T>G