ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827007307
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000055401
RCV002513720
RCV003380408
ClinVar Variation:
65184
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Ala558Ser
CA015864
NM_001318829.2:c.1672G>T