ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645434078
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
405984
ClinVar RCV Id:
RCV000469951
RCV001543108
RCV001696845
RCV002318520
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Asp1406Asn
CA050657
NM_000548.5:c.4216G>A