ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA107750
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000042595
RCV000359328
RCV000543686
RCV002336159
ClinVar Variation:
49335
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Asn1651Ser
CA021383
NM_000548.5:c.4952A>G