ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830435534
Gene: TH
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_954987.2:p.Asp487Tyr
CA379124525
NM_199293.3:c.1459G>T