ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825576962
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49317
ClinVar RCV Id:
RCV000042577
RCV000545050
RCV001022958
RCV001697037
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Thr1553Met
CA020954
NM_001114382.3:c.4658C>T