ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916023628
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
467894
ClinVar RCV Id:
RCV000548111
RCV003999257
RCV003302845
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Val602Ile
CA276735673
NM_001318832.2:c.1804G>A