ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827004772
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49479
ClinVar RCV Id:
RCV000042739
RCV000412893
RCV001036250
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Tyr1446Cys
CA020809
NM_001318827.2:c.4337A>G