ClinGen Allele Registry
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Canonical Allele Identifier:
PA3079269670
Gene: P3H3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055077.2:p.Ile685Arg
CA383670894
NM_014262.5:c.2054T>G