ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658659613
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
466024
ClinVar RCV Id:
RCV000560409
RCV000573643
RCV003999188
RCV001574705
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000359.1:p.Leu439Val
CA028025
NM_000368.5:c.1315C>G