ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828061394
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207622
ClinVar RCV Id:
RCV000189830
RCV000697883
RCV001020374
RCV003996853
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349106.1:p.Asn1036Asp
CA319266
NM_001362177.1:c.3106A>G