ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828418115
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000644078
RCV000765268
RCV001014102
RCV004003988
ClinVar Variation:
535866
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357334.1:p.Ala675Ser
CA276737715
NM_001370405.1:c.2023G>T