ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825576663
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000042750
RCV001852889
RCV003441731
ClinVar Variation:
49490
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Pro1474Thr
CA020509
NM_001114382.3:c.4420C>A