ClinGen Allele Registry
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Canonical Allele Identifier:
PA645511245
Gene: P3H1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230175.1:p.Arg690Gly
CA801605
NM_001243246.2:c.2068C>G