ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825185782
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1018012
ClinVar RCV Id:
RCV001317253
RCV002456423
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Asn1225Ser
CA276750042
NM_000548.5:c.3674A>G