ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916027972
Gene: UBIAD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
857
ClinVar RCV Id:
RCV000000905
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317279.1:p.Val177Leu
CA114576
NM_001330350.2:c.529G>C