ClinGen Allele Registry
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Canonical Allele Identifier:
PA658680525
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
477320
ClinVar RCV:
RCV000570261
RCV001054845
RCV004001174
ClinVar Variation:
486691
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.His385Arg
CA028650
NM_000548.5:c.1154A>G