ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658805085
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
497137
ClinVar RCV Id:
RCV000592461
RCV001084298
RCV002331007
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Pro1458Thr
CA394301760
NM_000548.5:c.4372C>A