ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645426041
Gene: P3H1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071751.3:p.Gln722Lys
CA801502
NM_022356.4:c.2164C>A