ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828420274
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000227467
RCV003165607
ClinVar Variation:
238042
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357334.1:p.Ile1314Asn
CA10583331
NM_001370405.1:c.3941T>A