ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827010819
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000466214
RCV000572112
RCV002510893
RCV004000698
ClinVar Variation:
406017
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Val176Met
CA056118
NM_001318829.2:c.526G>A