ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645431891
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
405959
ClinVar RCV Id:
RCV000460360
RCV002402240
RCV004000679
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Tyr349Cys
CA16614703
NM_000548.5:c.1046A>G