ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825929327
Gene: P3H1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001139761.1:p.Gly502Arg
CA801813
NM_001146289.2:c.1504G>C