Canonical Allele Identifier: PA645395654
Gene: TH HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_954986.2:p.Arg129Ter
NM_199292.3:c.[384_385del;387A>T;389C>A]

NM_199292.3:c.385C>T