ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA099478
Gene: TSC1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
20143
ClinVar RCV:
RCV000005411
RCV000042336
ClinVar Variation:
5104
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000359.1:p.Met224Arg
CA008014
NM_000368.5:c.671T>G