ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658805097
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
536102
ClinVar RCV Id:
RCV000644406
RCV001023169
RCV004004050
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Ala1622Thr
CA052965
NM_000548.5:c.4864G>A