ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827013623
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406060
ClinVar RCV Id:
RCV000458103
RCV001015427
RCV001119144
RCV004539938
RCV003477947
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Ser602Gly
CA038952
NM_001318831.2:c.1804A>G