ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827010344
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
401020
ClinVar RCV:
RCV000658430
RCV001086881
RCV002257695
ClinVar Variation:
406062
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Met1606Val
CA054307
NM_001318829.2:c.4816A>G