Canonical Allele Identifier: PA2827332662
Gene: OFD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 11537
ClinVar RCV Id: RCV000012293
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317138.1:p.Ser395Arg
CA341099
NM_001330209.2:c.1183A>C
CA412342708
NM_001330209.2:c.1185T>A
CA412342710
NM_001330209.2:c.1185T>G