ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA264393
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000055090
RCV000574001
RCV000644057
RCV001562207
RCV004537239
ClinVar Variation:
64889
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Arg622Trp
CA016088
NM_000548.5:c.1864C>T