ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827016332
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49352
ClinVar RCV Id:
RCV000042612
RCV000190040
RCV001797601
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Leu1473Pro
CA021894
NM_001318831.2:c.4418T>C