ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825439065
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000330059
RCV000415620
RCV002338901
ClinVar Variation:
318332
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Asp1545Asn
CA10637331
NM_001077183.3:c.4633G>A