ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828413349
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
64927
ClinVar RCV Id:
RCV000055129
RCV000465863
RCV001020133
RCV001697040
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357333.1:p.Asp1082Val
CA019052
NM_001370404.1:c.3245A>T