Canonical Allele Identifier: PA2827305267
Gene: UBIAD1 HGNC NCBI
ClinVar RCV:
RCV000000905
ClinVar Variation:
857
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317278.1:p.Gly177Arg
CA114576
NM_001330349.2:c.529G>C
CA338691703
NM_001330349.2:c.529G>A