ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645433394
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
384002
ClinVar RCV Id:
RCV000435796
RCV001020594
RCV001797719
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Ala1185Val
CA16607153
NM_000548.5:c.3554C>T