ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA262574
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49317
ClinVar RCV Id:
RCV000042577
RCV000545050
RCV001022958
RCV001697037
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Thr1576Met
CA020954
NM_000548.5:c.4727C>T