ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825436469
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
324618
ClinVar RCV:
RCV000309089
RCV000644137
RCV002446569
ClinVar Variation:
318320
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Thr771Ile
CA10637328
NM_001077183.3:c.2312C>T