ClinGen Allele Registry
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Canonical Allele Identifier:
PA915987448
Gene: TSC1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
396749
ClinVar RCV:
RCV000457246
RCV002446833
RCV004001893
ClinVar Variation:
411225
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155899.1:p.Pro972Ser
CA035733
NM_001162427.2:c.2914C>T