ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658681165
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
486660
ClinVar RCV Id:
RCV000563553
RCV000983892
RCV003392417
RCV004001165
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Val1353Ile
CA050315
NM_000548.5:c.4057G>A