ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828416629
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
58546
ClinVar RCV:
RCV000042644
RCV000554931
RCV000612409
RCV002288539
RCV002381326
RCV003460556
ClinVar Variation:
49384
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357334.1:p.Thr246Ala
CA022910
NM_001370405.1:c.736A>G