ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658659584
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
466005
ClinVar RCV Id:
RCV000548696
RCV001017287
RCV003999182
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000359.1:p.Pro367Ala
CA375367523
NM_000368.5:c.1099C>G