ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827005104
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
318335
ClinVar RCV Id:
RCV000340816
RCV000475549
RCV002338902
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Asp1541Asn
CA053097
NM_001318827.2:c.4621G>A