ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829972711
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000570261
RCV001054845
RCV004001174
ClinVar Variation:
486691
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.His385Arg
CA028650
NM_021055.3:c.1154A>G