ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA191063
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
185109
ClinVar RCV Id:
RCV000164473
RCV000439211
RCV001086626
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000359.1:p.Arg689Cys
CA005878
NM_000368.5:c.2065C>T