ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658659464
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
466146
ClinVar RCV Id:
RCV000529494
RCV001023453
RCV001653899
RCV003476285
RCV003999228
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000359.1:p.Lys168Thr
CA200901566
NM_000368.5:c.503A>C