Canonical Allele Identifier: PA334192
Gene: OFD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 188156
ClinVar RCV Id: RCV000168046 RCV001818402 RCV002498832 RCV003436963 RCV004020001 RCV004539569
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003602.1:p.Lys432Glu
CA334191
NM_003611.3:c.1294A>G