ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825438805
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000470575
RCV002311771
RCV003463865
ClinVar Variation:
405997
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Pro1471Ser
CA16615034
NM_001077183.3:c.4411C>T