ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825434240
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
467927
ClinVar RCV Id:
RCV000549108
RCV001014482
RCV003459239
RCV003999266
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Lys72Arg
CA394303587
NM_001077183.3:c.215A>G