ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA240597
Gene: P3H1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071751.3:p.Pro718Ala
CA240595
NM_022356.4:c.2152C>G