ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825917662
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
135362
ClinVar RCV Id:
RCV000122187
RCV001040743
RCV003162558
RCV003474734
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155898.1:p.Ala427Leu
CA004602
NM_001162426.2:c.1279_1280delinsCT