ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA264679
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000055506
RCV000728954
RCV003512008
ClinVar Variation:
65284
593812
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Met1Ile