ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA264427
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000055129
RCV000465863
RCV001020133
RCV001697040
ClinVar Variation:
64927
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Asp1126Val
CA019052
NM_000548.5:c.3377A>T