ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828414788
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000644241
RCV001022800
RCV003225106
RCV003465408
RCV004004023
RCV004533367
ClinVar Variation:
535990
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357333.1:p.Asp1497Asn
CA276754962
NM_001370404.1:c.4489G>A