ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825576491
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000465620
RCV001022340
RCV001568800
ClinVar Variation:
406124
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Arg1428Cys
CA050953
NM_001114382.3:c.4282C>T