ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA109812
Gene: TH
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_954986.2:p.Thr314Met
CA278133
NM_199292.3:c.941C>T