ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827017021
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000189958
RCV000229518
RCV002327021
RCV003996876
ClinVar Variation:
207700
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Lys155Arg
CA050850
NM_001318832.2:c.464A>G