Allele Registry

Canonical Allele Identifier: PA2825929369

Gene: P3H1 HGNC NCBI

ClinVar RCV:

RCV000441888

RCV001095987

RCV001095988

ClinVar Variation:

379421

HGVS (amino-acid)	Matching Registered Transcripts
NP_001139761.1:p.Met549Ile	CA801749 NM_001146289.2:c.1647G>A CA339954826 NM_001146289.2:c.1647G>T CA339954827 NM_001146289.2:c.1647G>C