ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916023017
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000461553
RCV001019998
ClinVar Variation:
405981
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Ala866Gly
CA16614990
NM_001318831.2:c.2597C>G