ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827009000
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
535915
ClinVar RCV Id:
RCV000644144
RCV002358832
RCV004004000
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Asn1178Ser
CA394293642
NM_001318829.2:c.3533A>G