ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827010531
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000340010
RCV000457441
RCV001545216
RCV002255364
RCV002298569
RCV004537798
ClinVar Variation:
318338
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Pro1655Ser
CA055015
NM_001318829.2:c.4963C>T