ClinGen Allele Registry
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Canonical Allele Identifier:
PA915987428
Gene: TSC1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
459478
ClinVar RCV:
RCV000525879
RCV002258952
RCV002506340
RCV003983115
RCV003999216
RCV004525968
ClinVar Variation:
466113
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155899.1:p.Gly965Asp
CA375367719
NM_001162427.2:c.2894G>A