ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828420926
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
535990
ClinVar RCV Id:
RCV000644241
RCV001022800
RCV003465408
RCV003225106
RCV004004023
RCV004533367
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357334.1:p.Asp1498Asn
CA276754962
NM_001370405.1:c.4492G>A