ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916023547
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207659
ClinVar RCV Id:
RCV000189889
RCV000564968
RCV000557687
RCV000768351
RCV001200210
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Ser537Thr
CA031106
NM_001318832.2:c.1610G>C