ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA319561
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207766
ClinVar RCV Id:
RCV000546990
RCV000575342
RCV002469054
RCV003477648
RCV003996898
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Ala121Gly
CA047888
NM_000548.5:c.362C>G