ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825576180
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
238042
ClinVar RCV Id:
RCV000227467
RCV003165607
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Ile1334Asn
CA10583331
NM_001114382.3:c.4001T>A