Canonical Allele Identifier: PA2827334207
Gene: OFD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 159472
ClinVar RCV Id: RCV000146985 RCV000477252 RCV001689688 RCV004019775 RCV002492533
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317139.1:p.Lys748Thr
CA172899
NM_001330210.2:c.2243A>C