ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829974231
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
509382
ClinVar RCV Id:
RCV000615980
RCV000688126
RCV002404637
RCV004002515
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Ser592Asn
CA033474
NM_021055.3:c.1775G>A