ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658680734
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000559856
RCV000576099
RCV001558235
RCV003999261
ClinVar Variation:
467907
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Met649Val
CA034654
NM_000548.5:c.1945A>G