ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829972345
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
400763
ClinVar RCV:
RCV000474153
ClinVar Variation:
406128
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Asn331Asp
CA16614698
NM_021055.3:c.991A>G