ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828092621
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
467957
ClinVar RCV Id:
RCV000559686
RCV002438411
RCV003237913
RCV003999273
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350457.1:p.Ala894Val
CA040893
NM_001363528.2:c.2681C>T