ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658680710
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
486600
ClinVar RCV Id:
RCV000570537
RCV001369719
RCV003459405
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Ile610Val
CA394273002
NM_000548.5:c.1828A>G