ClinGen Allele Registry
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Canonical Allele Identifier:
PA915962053
Gene: TH
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000351.2:p.Arg98Ter
NM_000360.3:c.[291_292del;294A>T;296C>A]
NM_000360.3:c.292C>T