ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916023751
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
535965
ClinVar RCV Id:
RCV000644209
RCV002255485
RCV004004014
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Pro685Ser
CA035778
NM_001318832.2:c.2053C>T