ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827010394
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
238077
ClinVar RCV Id:
RCV000234330
RCV002338712
RCV003469153
RCV003223629
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Asp1619Val
CA10583344
NM_001318829.2:c.4856A>T