ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA107862
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49327
ClinVar RCV Id:
RCV000042587
RCV001383217
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.His1620Tyr
CA021147
NM_000548.5:c.4858C>T