ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916023980
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000559686
RCV002438411
RCV003237913
RCV003999273
ClinVar Variation:
467957
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Ala905Val
CA040893
NM_001318832.2:c.2714C>T