ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916022995
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
64856
ClinVar RCV Id:
RCV000055056
RCV000472588
RCV001019643
RCV001545684
RCV002496735
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Ser850Leu
CA018808
NM_001318831.2:c.2549C>T