ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827007296
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000302466
RCV000518552
RCV000555395
RCV000562015
RCV001545749
ClinVar Variation:
318315
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Ile557Val
CA033640
NM_001318829.2:c.1669A>G