ClinGen Allele Registry
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Canonical Allele Identifier:
PA645433524
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
383442
ClinVar RCV Id:
RCV001020951
RCV000964609
RCV001703809
RCV004533019
RCV003235210
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Ala1237Val
CA048133
NM_000548.5:c.3710C>T