Canonical Allele Identifier: PA1139748921
Gene: P3H1 HGNC NCBI
ClinVar RCV:
RCV001039117
ClinVar Variation:
837722
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_071751.3:p.Gly476Ser
CA801850
NM_022356.4:c.1426G>A