ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645432458
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406028
ClinVar RCV Id:
RCV000464898
RCV001764381
RCV004000701
RCV002446788
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Leu764Met
CA16615073
NM_000548.5:c.2290C>A