ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829981732
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
405997
ClinVar RCV Id:
RCV000470575
RCV002311771
RCV003463865
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Pro1495Ser
CA16615034
NM_021055.3:c.4483C>T