ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA263105
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000043324
RCV001042713
RCV002321537
RCV003313034
ClinVar Variation:
50058
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Ser1095Asn
CA018827
NM_000548.5:c.3284G>A