Canonical Allele Identifier: PA658810630
Gene: OFD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 532266
ClinVar RCV Id: RCV000638946 RCV002483822
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003602.1:p.Glu490Lys
CA412343079
NM_003611.3:c.1468G>A