ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645432074
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
318315
ClinVar RCV Id:
RCV000302466
RCV000518552
RCV000555395
RCV000562015
RCV001545749
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Ile606Val
CA033640
NM_000548.5:c.1816A>G