ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA108022
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
12393
ClinVar RCV Id:
RCV000013201
RCV000043065
RCV000055436
RCV000493720
RCV002345240
RCV002496339
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Pro1675Leu
CA021526
NM_000548.5:c.5024C>T