ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825929325
Gene: P3H1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001139761.1:p.Arg501Trp
CA801815
NM_001146289.2:c.1501C>T