ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829975115
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
401474
ClinVar RCV:
RCV000457153
RCV000568724
RCV000765267
ClinVar Variation:
406039
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Pro672Leu
CA16615063
NM_021055.3:c.2015C>T