ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827007814
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207669
ClinVar RCV Id:
RCV000814544
RCV002444770
RCV003153465
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.His714Tyr
CA038145
NM_001318829.2:c.2140C>T