ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658659672
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
486569
ClinVar RCV Id:
RCV000566852
RCV000808127
RCV001770526
RCV004001136
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000359.1:p.Thr643Ala
CA375362637
NM_000368.5:c.1927A>G