ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825438842
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
238056
ClinVar RCV Id:
RCV000228875
RCV000477702
RCV000564060
RCV003235153
RCV003998831
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Val1480Ile
CA051988
NM_001077183.3:c.4438G>A