ClinGen Allele Registry
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Canonical Allele Identifier:
PA264764
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000055607
RCV000465969
RCV000575914
RCV001557660
RCV003996482
ClinVar Variation:
65379
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.His152Asp
CA020642
NM_000548.5:c.454C>G