ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827005616
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000340010
RCV000457441
RCV001545216
RCV002255364
RCV002298569
RCV004537798
ClinVar Variation:
318338
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Pro1667Ser
CA055015
NM_001318827.2:c.4999C>T