Canonical Allele Identifier: PA2827305300
Gene: UBIAD1 HGNC NCBI
ClinVar RCV:
RCV000000907
ClinVar Variation:
859
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317279.1:p.Thr175Ile
CA114578
NM_001330350.2:c.524C>T