Canonical Allele Identifier: PA2826323626
Gene: P3H1 HGNC NCBI

Linked Data

ClinVar Variation Id: 379444
ClinVar RCV Id: RCV000443398 RCV000532565 RCV001101548
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001230175.1:p.Gly349Arg
CA801996
NM_001243246.2:c.1045G>A
CA339958828
NM_001243246.2:c.1045G>C