ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827007258
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49173
ClinVar RCV Id:
RCV000042429
RCV001298722
RCV001565367
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.His544Arg
CA015696
NM_001318829.2:c.1631A>G