ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827020448
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
318332
ClinVar RCV Id:
RCV000330059
RCV000415620
RCV002338901
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Asp1556Asn
CA10637331
NM_001318832.2:c.4666G>A