ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827003701
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_001305756.1:p.Asn1145Ser
CA276750042
NM_001318827.2:c.3434A>G