ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828420688
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
535987
ClinVar RCV Id:
RCV000644237
RCV002051724
RCV002331192
RCV004004022
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357334.1:p.Asp1435Asn
CA394302242
NM_001370405.1:c.4303G>A