ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829983120
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000462184
RCV001721233
RCV002336505
RCV003996873
RCV004539758
ClinVar Variation:
207693
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Asn1664Ser
CA054000
NM_021055.3:c.4991A>G