Canonical Allele Identifier: PA2827332659
Gene: OFD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 188156
ClinVar RCV Id: RCV000168046 RCV001818402 RCV002498832 RCV003436963 RCV004020001 RCV004539569
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317138.1:p.Lys392Glu
CA334191
NM_001330209.2:c.1174A>G