ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658805088
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000644158
RCV002331189
RCV004004004
ClinVar Variation:
535928
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Thr1485Ile
CA051214
NM_000548.5:c.4454C>T