ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658801518
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
534441
ClinVar RCV Id:
RCV001013644
RCV001496179
RCV001554285
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000359.1:p.Pro645Leu
CA375362586
NM_000368.5:c.1934C>T