ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825577311
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000644091
RCV000984876
ClinVar Variation:
535873
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Pro1652Gln
CA394311256
NM_001114382.3:c.4955C>A