Canonical Allele Identifier: PA645511245
Gene: P3H1 HGNC NCBI

Linked Data

ClinVar Variation Id: 440020
ClinVar RCV Id: RCV000506742 RCV001097679 RCV001099451 RCV003960196
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001230175.1:p.Arg690Gly
CA801605
NM_001243246.2:c.2068C>G