ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829976222
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
535969
ClinVar RCV Id:
RCV000644214
RCV001087283
RCV002449027
RCV004004015
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Val766Ala
CA038262
NM_021055.3:c.2297T>C