ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827009821
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000233971
RCV003165608
RCV003463660
RCV003998830
ClinVar Variation:
238055
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Ile1430Val
CA10583336
NM_001318829.2:c.4288A>G