ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827019050
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000469044
RCV001020619
RCV001721231
ClinVar Variation:
207678
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Leu1156Val
CA319374
NM_001318832.2:c.3466C>G