ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825576593
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49925
ClinVar RCV Id:
RCV000043192
RCV000474980
RCV001022469
RCV001086757
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Asp1455His
CA020460
NM_001114382.3:c.4363G>C