ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA107688
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000013205
RCV000042946
RCV000055317
RCV000414340
RCV000491426
RCV000768118
ClinVar Variation:
12397
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Arg611Gln
CA015920
NM_000548.5:c.1832G>A