ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829973595
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
75922
ClinVar RCV:
RCV000055196
RCV000547543
RCV003298099
ClinVar Variation:
64992
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.His522Tyr
CA015081
NM_021055.3:c.1564C>T