ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828415398
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49929
ClinVar RCV Id:
RCV000043196
RCV000693889
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357333.1:p.Pro1665Leu
CA021795
NM_001370404.1:c.4994C>T