ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827020025
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000042751
RCV002326760
RCV003511986
ClinVar Variation:
49491
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Pro1441Arg
CA020517
NM_001318832.2:c.4322C>G