ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825955658
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
378767
ClinVar RCV Id:
RCV000567359
RCV000734481
RCV001083120
RCV003902488
RCV003995989
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155899.1:p.Leu337Pro
CA027202
NM_001162427.2:c.1010T>C