ClinGen Allele Registry
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Canonical Allele Identifier:
PA645434518
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000458065
RCV001022436
RCV001529238
RCV004000720
ClinVar Variation:
406108
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Arg1470Cys
CA051067
NM_000548.5:c.4408C>T