ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825577707
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
318338
ClinVar RCV Id:
RCV000340010
RCV000457441
RCV001545216
RCV002298569
RCV002255364
RCV004537798
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Pro1747Ser
CA055015
NM_001114382.3:c.5239C>T