ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825574816
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000055315
RCV000055380
RCV000189909
RCV000562671
RCV000644061
ClinVar Variation:
65104
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Pro878Ser
CA017740
NM_001114382.3:c.2632C>T